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Cellosaurus SDQLCHi036-A (CVCL_A4XS)

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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 site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 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
Publications

PubMed=33550136; DOI=10.1016/j.scr.2021.102220
Jing-Yun Guan, Bei-Bei Yan, Hai-Yan Zhang, Chen Liu, Yue Li, Xiao-Meng Yang, Zi-Long Li, Zhong-Tao Gai, Yi Liu;
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)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi036-A
Encyclopedic resources Wikidata; Q107116890
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number5