Cellosaurus logo
expasy logo

Cellosaurus SDQLCHi061-A (CVCL_C9JL)

[Text][XML][JSON]
Cell line name SDQLCHi061-A
Accession CVCL_C9JL
Resource Identification Initiative To cite this cell line use: SDQLCHi061-A (RRID:CVCL_C9JL)
Comments From: Qilu Children's Hospital of Shandong University; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2323; CPS1; Simple; p.Met792Val (c.2374A>G); Zygosity=Heterozygous (PubMed=38394969).
  • Mutation; HGNC; HGNC:2323; CPS1; Simple; p.Arg1317Trp (c.3949C>T); ClinVar=VCV002441763; Zygosity=Heterozygous (PubMed=38394969).
Disease Carbamoyl-phosphate synthetase I deficiency (NCIt: C84612)
Carbamoyl-phosphate synthetase 1 deficiency (ORDO: Orphanet_147)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 1D
Category Induced pluripotent stem cell
Publications

PubMed=38394969; DOI=10.1016/j.scr.2024.103353
Jing-Yun Guan, Li Shen, Chen Liu, Yu-Qiang Lv, Hai-Yan Zhang, Yi Liu, Zhong-Tao Gai;
Establishment of iPS cell line (SDQLCHi061-A) from a patient with carbamoylphosphate synthetase I deficiency due to CPS1 mutation.
Stem Cell Res. 76:103353-103353(2024)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi061-A
Biological sample resources BioSamples; SAMEA115084979
Encyclopedic resources Wikidata; Q123033471
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number4