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Cellosaurus SDQLCHi009-A (CVCL_YK73)

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Cell line name SDQLCHi009-A
Accession CVCL_YK73
Resource Identification Initiative To cite this cell line use: SDQLCHi009-A (RRID:CVCL_YK73)
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:8512; OTC; Simple; c.663+2T>G; Zygosity=Hemizygous; Note=Splice donor mutation (PubMed=32014801).
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 3Y
Category Induced pluripotent stem cell
Publications

PubMed=32014801; DOI=10.1016/j.scr.2020.101704
Xiao-Meng Yang, Bei-Bei Yan, Hai-Yan Zhang, Yan-Yan Ma, Qi Zhou, Yue Li, Jing-Yun Guan, Dong Wang, Yi Liu, Zhong-Tao Gai;
Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and ornithine transcarbamylase deficiency carrying a hemizygote mutation in OTC.
Stem Cell Res. 43:101704-101704(2020)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi009-A
SKIP; SKIP005641
Encyclopedic resources Wikidata; Q98129464
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number9