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Cellosaurus SDQLCHi036-A (CVCL_A4XS)

[Text version]

Cell line name SDQLCHi036-A
Accession CVCL_A4XS
Resource Identification Initiative To cite this cell line use: SDQLCHi036-A (RRID:CVCL_A4XS)
Comments From: Qilu Children's Hospital of Shandong University; Jinan; China.
Derived from sampling site: Peripheral blood.
Sequence variations Mutation; HGNC; 8512; OTC; Unexplicit; Ex3-9del; Zygosity=Heterozygous (PubMed=33550136).
Disease Ornithine carbamoyltransferase deficiency disease (NCIt: C84957)
Ornithine transcarbamylase deficiency (ORDO: Orphanet_664)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4D
Category Induced pluripotent stem cell

PubMed=33550136; DOI=10.1016/j.scr.2021.102220
Guan J.-Y., Yan B.-B., Zhang H.-Y., Liu C., Li Y., Yang X.-M., Li Z.-L., Gai Z.-T., Liu Y.
Generation of a human induced pluripotent stem cell line (SDQLCHi036-A) from a patient with ornithine transcarbamylase deficiency carrying a deletion involving 3-9 exons of OTC gene.
Stem Cell Res. 52:102220-102220(2021)

Cell line databases/resources hPSCreg; SDQLCHi036-A
Encyclopedic resources Wikidata; Q107116890
Entry history
Entry creation20-May-2021
Last entry update23-Sep-2021
Version number2