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Cellosaurus SDQLCHi026-A (CVCL_ZC36)

[Text version]
Cell line name SDQLCHi026-A
Accession CVCL_ZC36
Resource Identification Initiative To cite this cell line use: SDQLCHi026-A (RRID:CVCL_ZC36)
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; 3579; FAH; Simple; p.Pro261Leu (c.782C>T); ClinVar=VCV000021058; Zygosity=Heterozygous (PubMed=33882394).
  • Mutation; HGNC; 3579; FAH; Simple; p.Trp234Leu (c.701G>T); Zygosity=Heterozygous (PubMed=33882394).
Disease Tyrosinemia type I (NCIt: C98641)
Tyrosinemia type 1 (ORDO: Orphanet_882)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 35D
Category Induced pluripotent stem cell
Publications

PubMed=33882394; DOI=10.1016/j.scr.2021.102331
Zhang H.-Y., Liu C., Ma Y.-Y., Lin L., Lv Y.-Q., Gao M., Gai Z.-T., Liu Y.
Generation of an induced pluripotent stem cell line SDQLCHi026-A from a hereditary tyrosinemia type I patient carrying compound heterozygote mutations in FAH gene.
Stem Cell Res. 53:102331-102331(2021)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi026-A
Encyclopedic resources Wikidata; Q98129490
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number5