ID   QBRIi014-A
AC   CVCL_C1VV
SY   NDD01; NDD_01; hiPSC_11080401_c1
DR   BioSamples; SAMEA111347413
DR   hPSCreg; QBRIi014-A
DR   Wikidata; Q114312745
RX   PubMed=36272305;
CC   From: Qatar Biomedical Research Institute; Doha; Quatar.
CC   Population: Arab.
CC   Sequence variation: Mutation; HGNC; HGNC:15751; NAPB; Simple; c.354+2T>G; Zygosity=Homozygous; Note=Splice donor mutation (PubMed=36272305).
CC   Donor information: Established from monozygotic triplet of QBRIi015-A (Cellosaurus=CVCL_C1VW) and QBRIi016-A (Cellosaurus=CVCL_C1VX).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C190869; Developmental and epileptic encephalopathy 107
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   28Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 19-12-24; Version: 6
//
RX   PubMed=36272305; DOI=10.1016/j.scr.2022.102943;
RA   Ali, Gowher
RA   Habbab, Wesal
RA   Alkhadairi, Ghaneya
RA   Al-Shaban, Fouad A.
RA   Stanton, Lawrence Walter
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).
//