ID   SDQLCHi043-A
AC   CVCL_A8NI
DR   hPSCreg; SDQLCHi043-A
DR   Wikidata; Q108821286
RX   PubMed=38394970;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 8654; PCCB; Simple; p.Arg111Ter (c.331C>T); ClinVar=VCV000553380; Zygosity=Heterozygous (PubMed=38394970).
CC   Sequence variation: Mutation; HGNC; 8654; PCCB; Simple; c.1498+2T>C; ClinVar=VCV000217895; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=38394970).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85030; Propionic acidemia
DI   ORDO; Orphanet_35; Propionic acidemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   9D
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 02-05-24; Version: 4
//
RX   PubMed=38394970; DOI=10.1016/j.scr.2024.103352;
RA   Li Z.-L., Liu C., Xin H.-M., Lv Y.-Q., Gao M., Ma J., Liu N.,
RA   Gai Z.-T., Liu Y.;
RT   "Establishment of a non-integrated iPSC line (SDQLCHi043-A) from a
RT   male infant with propionic acidemia carrying compound heterozygote
RT   mutations in PCCB gene.";
RL   Stem Cell Res. 76:103352-103352(2024).
//