• Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[43] (c.52CAG(43)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=22952635).
  

PubMed=22952635; DOI=10.1371/journal.pone.0043099; PMCID=PMC3428297
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NINDS ALS iPSC Consortium
NINDS Huntington's Disease iPSC Consortium
NINDS Parkinson's Disease iPSC Consortium
Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.
PLoS ONE 7:e43099.1-e43099.8(2012)

PubMed=30256717; DOI=10.1091/mbc.E18-09-0590; PMCID=PMC6249865
Claudia Lin-Kar Hung, Tamara Maiuri, Laura Erin Bowie, Ryan Gotesman, Susie Son, Mina Falcone, James Victor Giordano, Tammy Gillis, Virginia B. Mattis, Trevor Lau, Vickie Kwan ...Show all 15 authors... , Vanessa Chantal Wheeler, Jonathan Schertzer, Karun Singh, Ray Truant; Show fewer authors
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