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Cellosaurus GZWWTi001-A [2019] (CVCL_YM90)

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Cell line name GZWWTi001-A [2019]
Synonyms ASD1-iPSC
Accession CVCL_YM90
Resource Identification Initiative To cite this cell line use: GZWWTi001-A [2019] (RRID:CVCL_YM90)
Comments From: The Third Affiliated Hospital of Guangzhou Medical University; Guangzhou; China.
Population: Chinese.
Caution: This group has named GZWWTi001-A two different iPSC cell lines.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:753; ASNS; Simple; p.Ala267Val (c.800C>T) (c.551C>T); Zygosity=Heterozygous (PubMed=31698190).
  • Mutation; HGNC; HGNC:753; ASNS; Simple; p.Tyr398Ser (c.1193A>C) (c.944A>C); ClinVar=VCV001456043; Zygosity=Heterozygous (PubMed=31698190).
Disease Asparagine synthetase deficiency (NCIt: C168586)
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome (ORDO: Orphanet_391376)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 6Y
Category Induced pluripotent stem cell
Publications

PubMed=31698190; DOI=10.1016/j.scr.2019.101583
Ying-Jun Xie, Dian Lu, Ding Wang, Shao-Ying Li, Ying-Hong Yang, Neng-Qing Liu, Xiao-Fang Sun;
Generation of four induced pluripotent stem cell lines, GZWWTi001-A, GZWTZi001-A, GZWXYi001-A, and GZWXDi001-A, derived from peripheral blood mononuclear cells from a family with asparagine synthetase deficiency.
Stem Cell Res. 41:101583-101583(2019)

Cross-references
Cell line databases/resources SKIP; SKIP005594
Encyclopedic resources Wikidata; Q93935535
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number8