ID   KCLi013-A
AC   CVCL_A5RD
DR   hPSCreg; KCLi013-A
DR   Wikidata; Q107115551
RX   PubMed=33610019;
CC   From: King's College London; London; United Kingdom.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:535; ANXA11; Simple; p.Arg235Gln (c.704G>A); dbSNP=rs765489119; Zygosity=Heterozygous (PubMed=33610019).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C178411; Amyotrophic lateral sclerosis 23
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   66Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=33610019; DOI=10.1016/j.scr.2021.102246; PMCID=PMC7988463;
RA   Hedges, Erin Christine
RA   Topp, Simon
RA   Shaw, Christopher Edward Dennistoun
RA   Nishimura, Agnes Lumi
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).
//