ID   SDQLCHi036-A
AC   CVCL_A4XS
DR   hPSCreg; SDQLCHi036-A
DR   Wikidata; Q107116890
RX   PubMed=33550136;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Sequence variation: Mutation; HGNC; 8512; OTC; Unexplicit; Ex3-9del; Zygosity=Heterozygous (PubMed=33550136).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84957; Ornithine carbamoyltransferase deficiency disease
DI   ORDO; Orphanet_664; Ornithine transcarbamylase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4D
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33550136; DOI=10.1016/j.scr.2021.102220;
RA   Guan J.-Y., Yan B.-B., Zhang H.-Y., Liu C., Li Y., Yang X.-M., Li Z.-L.,
RA   Gai Z.-T., Liu Y.;
RT   "Generation of a human induced pluripotent stem cell line
RT   (SDQLCHi036-A) from a patient with ornithine transcarbamylase
RT   deficiency carrying a deletion involving 3-9 exons of OTC gene.";
RL   Stem Cell Res. 52:102220-102220(2021).
//