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Cellosaurus SYSUi004-A (CVCL_YT13)

[Text version]
Cell line name SYSUi004-A
Synonyms SYSUi-004-A
Accession CVCL_YT13
Resource Identification Initiative To cite this cell line use: SYSUi004-A (RRID:CVCL_YT13)
Comments From: Sun Yat-sen University; Guangzhou; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 25598; TYW1; Simple; p.Arg206Cys (c.616C>T); Zygosity=Heterozygous (PubMed=32279010).
  • Mutation; HGNC; 25598; TYW1; Simple; p.Arg389Gln (c.1166G>A); Zygosity=Heterozygous (PubMed=32279010).
Disease Microcephaly (NCIt: C85874)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 10Y
Category Induced pluripotent stem cell
Publications

PubMed=32279010; DOI=10.1016/j.scr.2020.101783
Sun C.-B., Zhou P., Yuan S.-M., Guo R.-R., Zhang Z., Xu Q.-Y., Han D.-D., He L., Tang H.-M., Xu K.-S., Hu H., Li N.
Generation of an induced pluripotent stem cell line SYSUi-004-A from a child of microcephaly with TYW1 mutations.
Stem Cell Res. 45:101783-101783(2020)

Cross-references
Cell line databases/resources hPSCreg; SYSUi004-A
SKIP; SKIP005745
SKIP; SKIP005788
Encyclopedic resources Wikidata; Q98132954
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number7