ID   BCHNEi001-A
AC   CVCL_C4S7
SY   BCHNCi001-A
DR   BioSamples; SAMEA111439174
DR   hPSCreg; BCHNCi001-A
DR   hPSCreg; BCHNEi001-A
DR   Wikidata; Q116048585
RX   PubMed=36283272;
CC   From: Department of Neurology, Beijing Children's Hospital; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 1424; CAD; Simple; p.Tyr36Tyrfs*15 (c.108delC); Zygosity=Heterozygous (PubMed=36283272).
CC   Sequence variation: Mutation; HGNC; 1424; CAD; Simple; p.Val1259Met (c.3775G>A); Zygosity=Heterozygous (PubMed=36283272).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C190868; Developmental and epileptic encephalopathy 50
DI   ORDO; Orphanet_448010; CAD-CDG
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 15-12-22; Last updated: 29-06-23; Version: 3
//
RX   PubMed=36283272; DOI=10.1016/j.scr.2022.102947;
RA   Zhou L., Xu H., Wu Y., Fang F.;
RT   "Generation of a human iPSC line BCHNCi001-A from a patient with
RT   uridine-responsive epileptic encephalopathy carrying biallelic CAD
RT   mutations.";
RL   Stem Cell Res. 65:102947-102947(2022).
//