OALib Journal期刊
ISSN: 2333-9721
费用：99美元

投递稿件

查看量	下载量

相关文章
Toward a well defined monopole creation operator
POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype
Direct Induction of Chondrogenic Cells from Human Dermal Fibroblast Culture by Defined Factors
Influence of gain-of-function mutation (Ser252Trp) in fibroblast growth factor receptor 2 gene on long bone development
The paralysé (par) mouse neurological mutation maps to a 9 Mbp (4 cM) interval of mouse chromosome 18
A Ser252Trp Mutation in Fibroblast Growth Factor Receptor 2 (FGFR2) Mimicking Human Apert Syndrome Reveals an Essential Role for FGF Signaling in the Regulation of Endochondral Bone Formation
Spectrum of ATP7B Gene Mutations in Pakistani Wilson Disease Patients: A Novel Mutation Is Associated with Severe Hepatic and Neurological Complication
Log odds of carrying an Ancestral Mutation in BRCA1 or BRCA2 for a Defined personal and family history in an Ashkenazi Jewish woman (LAMBDA)
Fibroblast biology: Signals targeting the synovial fibroblast in arthritis
Avoiding Misdiagnosis in Patients with Neurological Emergencies
更多...

PLOS ONE 2012

Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research

DOI: 10.1371/journal.pone.0043099

Selina Wray, Matthew Self, NINDS Parkinson's Disease iPSC Consortium , NINDS Huntington's Disease iPSC Consortium , NINDS ALS iPSC Consortium , Patrick A. Lewis, Jan-Willem Taanman, Natalie S. Ryan, Colin J. Mahoney, Yuying Liang, Michael J. Devine, Una-Marie Sheerin, Henry Houlden, Huw R. Morris, Daniel Healy, Jose-Felix Marti-Masso, Elisavet Preza, Suzanne Barker, Margaret Sutherland, Roderick A. Corriveau, Michael D'Andrea, Anthony H. V. Schapira, Ryan J. Uitti, Mark Guttman, Grzegorz Opala, Barbara Jasinska-Myga, Andreas Puschmann, Christer Nilsson, Alberto J. Espay, Jaroslaw Slawek, Ludwig Gutmann, Bradley F. Boeve, Kevin Boylan, A. Jon Stoessl, Owen A. Ross, Nicholas J. Maragakis, Jay Van Gerpen, Melissa Gerstenhaber, Katrina Gwinn, Ted M. Dawson, Ole Isacson, Karen S. Marder, Lorraine N. Clark, Serge E. Przedborski, Steven Finkbeiner, Jeffrey D. Rothstein, Zbigniew K. Wszolek, Martin N. Rossor, John Hardy

Full-Text Cite this paper Add to My Lib

Abstract:

Our understanding of the molecular mechanisms of many neurological disorders has been greatly enhanced by the discovery of mutations in genes linked to familial forms of these diseases. These have facilitated the generation of cell and animal models that can be used to understand the underlying molecular pathology. Recently, there has been a surge of interest in the use of patient-derived cells, due to the development of induced pluripotent stem cells and their subsequent differentiation into neurons and glia. Access to patient cell lines carrying the relevant mutations is a limiting factor for many centres wishing to pursue this research. We have therefore generated an open-access collection of fibroblast lines from patients carrying mutations linked to neurological disease. These cell lines have been deposited in the National Institute for Neurological Disorders and Stroke (NINDS) Repository at the Coriell Institute for Medical Research and can be requested by any research group for use in in vitro disease modelling. There are currently 71 mutation-defined cell lines available for request from a wide range of neurological disorders and this collection will be continually expanded. This represents a significant resource that will advance the use of patient cells as disease models by the scientific community.

References

[1]	Goate A, Chartier-Harlin MC, Mullan M, Brown J, Crawford F, et al. (1991) Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 349: 704–706.
[2]	Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, et al. (1995) Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 269: 973–977.
[3]	Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, et al. (1995) Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature 376: 775–778.
[4]	Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, et al. (1995) Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 375: 754–760.
[5]	Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, et al. (1998) Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 392: 605–608.
[6]	Paisan-Ruiz C, Jain S, Evans EW, Gilks WP, Simon J, et al. (2004) Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 44: 595–600.
[7]	Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, et al. (2009) Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med 361: 1651–1661.
[8]	Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, et al. (2003) alpha-Synuclein locus triplication causes Parkinson's disease. Science 302: 841.
[9]	Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, et al. (2004) Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304: 1158–1160.
[10]	Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, et al. (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362: 59–62.
[11]	Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, et al. (2008) TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 319: 1668–1672.
[12]	Vance C, Rogelj B, Hortobagyi T, De Vos KJ, Nishimura AL, et al. (2009) Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323: 1208–1211.
[13]	Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, et al. (2006) Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 442: 916–919.
[14]	Cruts M, Gijselinck I, van der Zee J, Engelborghs S, Wils H, et al. (2006) Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 442: 920–924.
[15]	Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, et al. (1998) Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393: 702–705.
[16]	The Huntington's Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group. Cell 72: 971–983.
[17]	Bottomley RH, Trainer AL, Griffin MJ (1969) Enzymatic and chromosomal characterization of HeLa variants. J Cell Biol 41: 806–815.
[18]	Falkenburger BH, Schulz JB (2006) Limitations of cellular models in Parkinson's disease research. J Neural Transm Suppl 261–268.
[19]	Gibbs JR, Singleton A (2006) Application of genome-wide single nucleotide polymorphism typing: simple association and beyond. PLoS Genet 2: 150.
[20]	Yu J, Vodyanik MA, Smuga-Otto K, Antosiewicz-Bourget J, Frane JL, et al. (2007) Induced pluripotent stem cell lines derived from human somatic cells. Science 318: 1917–1920.
[21]	Takahashi K, Tanabe K, Ohnuki M, Narita M, Ichisaka T, et al. (2007) Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell 131: 861–872.
[22]	Park IH, Zhao R, West JA, Yabuuchi A, Huo H, et al. (2008) Reprogramming of human somatic cells to pluripotency with defined factors. Nature 451: 141–146.
[23]	Devine MJ, Ryten M, Vodicka P, Thomson AJ, Burdon T, et al. (2011) Parkinson's disease induced pluripotent stem cells with triplication of the alpha-synuclein locus. Nat Commun 2: 440.
[24]	Dimos JT, Rodolfa KT, Niakan KK, Weisenthal LM, Mitsumoto H, et al. (2008) Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons. Science 321: 1218–1221.
[25]	Koch P, Breuer P, Peitz M, Jungverdorben J, Kesavan J, et al. (2011) Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease. Nature 480: 543–546.
[26]	Qiang L, Fujita R, Yamashita T, Angulo S, Rhinn H, et al. (2011) Directed conversion of Alzheimer's disease patient skin fibroblasts into functional neurons. Cell 146: 359–371.
[27]	Cooper O, Seo H, Andrabi S, Guardia-Laguarta C, Graziotto J, et al. (2012) Pharmacological Rescue of Mitochondrial Deficits in iPSC-Derived Neural Cells from Patients with Familial Parkinson's Disease. Sci Transl Med 4: 141.
[28]	Shi Y, Kirwan P, Smith J, Maclean G, Orkin SH, et al. (2012) A human stem cell model of early Alzheimer's disease pathology in down syndrome. Sci Transl Med 4: 124ra29.
[29]	Israel MA, Yuan SH, Bardy C, Reyna SM, Mu Y, et al. (2012) Probing sporadic and familial Alzheimer's disease using induced pluripotent stem cells. Nature 482: 216–220.
[30]	Cherry AB, Daley GQ (2012) Reprogramming Cellular Identity for Regenerative Medicine. Cell 148: 1110–1122.
[31]	Strutz F, Okada H, Lo CW, Danoff T, Carone RL, et al. (1995) Identification and characterization of a fibroblast marker: FSP1. J Cell Biol 130: 393–405.
[32]	Park IH, Arora N, Huo H, Maherali N, Ahfeldt T, et al. (2008) Disease-specific induced pluripotent stem cells. Cell 134: 877–886.
[33]	Campion D, Flaman JM, Brice A, Hannequin D, Dubois B, et al. (1995) Mutations of the presenilin I gene in families with early-onset Alzheimer's disease. Hum Mol Genet 4: 2373–2377.
[34]	Jorgensen P, Bus C, Pallisgaard N, Bryder M, Jorgensen AL (1996) Familial Alzheimer's disease co-segregates with a Met146I1e substitution in presenilin-1. Clin Genet 50: 281–286.
[35]	Janssen JC, Beck JA, Campbell TA, Dickinson A, Fox NC, et al. (2003) Early onset familial Alzheimer's disease: Mutation frequency in 31 families. Neurology 60: 235–239.
[36]	Godbolt AK, Beck JA, Collinge J, Garrard P, Warren JD, et al. (2004) A presenilin 1 R278I mutation presenting with language impairment. Neurology 63: 1702–1704.
[37]	Gwinn K, Devine MJ, Jin LW, Johnson J, Bird T, et al. (2011) Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by alpha-synuclein triplication (Iowa kindred). Mov Disord 26: 2134–2136.
[38]	Wszolek ZK, Pfeiffer B, Fulgham JR, Parisi JE, Thompson BM, et al. (1995) Western Nebraska family (family D) with autosomal dominant parkinsonism. Neurology 45: 502–505.
[39]	Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, et al. (2004) Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 44: 601–607.
[40]	Healy DG, Falchi M, O'Sullivan SS, Bonifati V, Durr A, et al. (2008) Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol 7: 583–590.
[41]	Clark LN, Wang Y, Karlins E, Saito L, Mejia-Santana H, et al. (2006) Frequency of LRRK2 mutations in early- and late-onset Parkinson disease. Neurology 67: 1786–1791.
[42]	Alcalay RN, Caccappolo E, Mejia-Santana H, Tang MX, Rosado L, et al. (2010) Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study. Arch Neurol 67: 1116–1122.
[43]	Ishihara L, Warren L, Gibson R, Amouri R, Lesage S, et al. (2006) Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations. Arch Neurol 63: 1250–1254.
[44]	Clark LN, Ross BM, Wang Y, Mejia-Santana H, Harris J, et al. (2007) Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease. Neurology 69: 1270–1277.
[45]	Marder KS, Tang MX, Mejia-Santana H, Rosado L, Louis ED, et al. (2010) Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study. Arch Neurol 67: 731–738.
[46]	Clark LN, Haamer E, Mejia-Santana H, Harris J, Lesage S, et al. (2007) Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene. Mov Disord 22: 932–937.
[47]	Puschmann A (2011) Heredity in Parkinson's disease. From rare mutations to common genetic risk factors. Lund University, Faculty of Medicine Doctoral Dissertation Series 2011: 95. 1–174.
[48]	Narozanska E, Jasinska-Myga B, Sitek EJ, Robowski P, Brockhuis B, et al. (2011) Frontotemporal dementia and parkinsonism linked to chromosome 17–the first Polish family. Eur J Neurol 18: 535–537.
[49]	Whitwell JL, Jack CR Jr, Boeve BF, Senjem ML, Baker M, et al. (2009) Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations. Neurology 73: 1058–1065.
[50]	Wszolek ZK, Pfeiffer RF, Bhatt MH, Schelper RL, Cordes M, et al. (1992) Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration. Ann Neurol 32: 312–320.
[51]	Tsuboi Y, Baker M, Hutton ML, Uitti RJ, Rascol O, et al. (2002) Clinical and genetic studies of families with the tau N279K mutation (FTDP-17). Neurology 59: 1791–1793.
[52]	Janssen JC, Warrington EK, Morris HR, Lantos P, Brown J, et al. (2002) Clinical features of frontotemporal dementia due to the intronic tau 10(+16) mutation. Neurology 58: 1161–1168.
[53]	Kantarci K, Boeve BF, Wszolek ZK, Rademakers R, Whitwell JL, et al. (2010) MRS in presymptomatic MAPT mutation carriers: a potential biomarker for tau-mediated pathology. Neurology 75: 771–778.
[54]	Gass J, Cannon A, Mackenzie IR, Boeve B, Baker M, et al. (2006) Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet 15: 2988–3001.
[55]	Rohrer JD, Guerreiro R, Vandrovcova J, Uphill J, Reiman D, et al. (2009) The heritability and genetics of frontotemporal lobar degeneration. Neurology 73: 1451–1456.
[56]	Miller TD, Jackson AP, Barresi R, Smart CM, Eugenicos M, et al. (2009) Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD): clinical features including sphincter disturbance in a large pedigree. J Neurol Neurosurg Psychiatry 80: 583–584.
[57]	Farrer MJ, Hulihan MM, Kachergus JM, Dachsel JC, Stoessl AJ, et al. (2009) DCTN1 mutations in Perry syndrome. Nat Genet 41: 163–165.
[58]	Wider C, Dickson DW, Stoessl AJ, Tsuboi Y, Chapon F, et al. (2009) Pallidonigral TDP-43 pathology in Perry syndrome. Parkinsonism Relat Disord 15: 281–286.
[59]	Van Gerpen JA, Ledoux MS, Wszolek ZK (2010) Adult-onset leg dystonia due to a missense mutation in THAP1. Mov Disord 25: 1306–1307.
[60]	Ledoux MS, Xiao J, Rudzinska M, Bastian RW, Wszolek ZK, et al. (2012) Genotype-phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases. Parkinsonism Relat Disord
[61]	Hayflick L, Moorhead PS (1961) The serial cultivation of human diploid cell strains. Exp Cell Res 25: 585–621.
[62]	Kitada M, Wakao S, Dezawa M (2012) Muse cells and induced pluripotent stem cell: implication of the elite model. Cell Mol Life Sci
[63]	Wakao S, Kitada M, Kuroda Y, Shigemoto T, Matsuse D, et al. (2011) Multilineage-differentiating stress-enduring (Muse) cells are a primary source of induced pluripotent stem cells in human fibroblasts. Proc Natl Acad Sci U S A 108: 9875–9880.
[64]	Feng B, Ng JH, Heng JC, Ng HH (2009) Molecules that promote or enhance reprogramming of somatic cells to induced pluripotent stem cells. Cell Stem Cell 4: 301–312.

Full-Text