ID   QBRIi017-A
AC   CVCL_C1VY
SY   CtrlM; hiPSC_11080402_c1
DR   BioSamples; SAMEA111396559
DR   hPSCreg; QBRIi017-A
DR   Wikidata; Q114312748
RX   PubMed=36272305;
CC   From: Qatar Biomedical Research Institute; Doha; Quatar.
CC   Population: Arab.
CC   Sequence variation: Mutation; HGNC; 15751; NAPB; Simple; c.354+2T>G; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=36272305).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   63Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 05-10-23; Version: 5
//
RX   PubMed=36272305; DOI=10.1016/j.scr.2022.102943;
RA   Ali G., Habbab W., Alkhadairi G., Al-Shaban F.A., Stanton L.W.;
RT   "Generation of induced pluripotent stem cell lines from nonaffected
RT   parents and monozygotic triplets affected with autism spectrum
RT   disorder and epilepsy.";
RL   Stem Cell Res. 65:102943-102943(2022).
//