ID   SDQLCHi061-A
AC   CVCL_C9JL
DR   BioSamples; SAMEA115084979
DR   hPSCreg; SDQLCHi061-A
DR   Wikidata; Q123033471
RX   PubMed=38394969;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:2323; CPS1; Simple; p.Met792Val (c.2374A>G); Zygosity=Heterozygous (PubMed=38394969).
CC   Sequence variation: Mutation; HGNC; HGNC:2323; CPS1; Simple; p.Arg1317Trp (c.3949C>T); ClinVar=VCV002441763; Zygosity=Heterozygous (PubMed=38394969).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84612; Carbamoyl-phosphate synthetase I deficiency
DI   ORDO; Orphanet_147; Carbamoyl-phosphate synthetase 1 deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1D
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 4
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RX   PubMed=38394969; DOI=10.1016/j.scr.2024.103353;
RA   Guan J.-Y., Shen L., Liu C., Lv Y.-Q., Zhang H.-Y., Liu Y., Gai Z.-T.;
RT   "Establishment of iPS cell line (SDQLCHi061-A) from a patient with
RT   carbamoylphosphate synthetase I deficiency due to CPS1 mutation.";
RL   Stem Cell Res. 76:103353-103353(2024).
//