ID   KCLi009-A
AC   CVCL_A5QZ
DR   hPSCreg; KCLi009-A
DR   Wikidata; Q107115543
RX   PubMed=33610019;
CC   From: King's College London; London; United Kingdom.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4010; FUS; Simple; p.Arg521His (c.1562G>A); ClinVar=VCV000016225; Zygosity=Heterozygous (PubMed=33610019).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from sampling site: Peripheral blood.
DI   NCIt; C168750; Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
AG   44Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 16-12-21; Version: 3
//
RX   PubMed=33610019; DOI=10.1016/j.scr.2021.102246;
RA   Hedges E.C., Topp S., Shaw C.E., Nishimura A.L.;
RT   "Generation of six induced pluripotent stem cell lines from patients
RT   with amyotrophic lateral sclerosis with associated genetic mutations
RT   in either FUS or ANXA11.";
RL   Stem Cell Res. 52:102246-102246(2021).
//