ID   SDQLCHi057-A
AC   CVCL_C9JH
DR   hPSCreg; SDQLCHi057-A
DR   Wikidata; Q123033466
RX   PubMed=38401345;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:6186; IVD; Simple; p.Asn72Ser (c.215A>G); ClinVar=VCV002168221; Zygosity=Heterozygous (PubMed=38401345).
CC   Sequence variation: Mutation; HGNC; HGNC:6186; IVD; Simple; p.Met295Val (c.883A>G); Zygosity=Heterozygous (PubMed=38401345).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C98964; Isovaleric acidemia
DI   ORDO; Orphanet_33; Isovaleric acidemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y7M
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 4
//
RX   PubMed=38401345; DOI=10.1016/j.scr.2024.103314;
RA   Liu N., Zhang Y.-A., Dong R., Lv Y.-Q., Gao M., Yang X.-M., Liu Y.,
RA   Gai Z.-T.;
RT   "Generation of a human induced pluripotent stem cell line
RT   (SDQLCHi057-A) from an isovaleric aciduria patient carrying novel
RT   compound heterozygous mutations in the IVD gene.";
RL   Stem Cell Res. 76:103314-103314(2024).
//