Cellosaurus logo
expasy logo

Cellosaurus GWCMCi005-A (CVCL_C0F0)

[Text version]
Cell line name GWCMCi005-A
Synonyms GWCMCi-TANC2
Accession CVCL_C0F0
Resource Identification Initiative To cite this cell line use: GWCMCi005-A (RRID:CVCL_C0F0)
Comments From: Guangzhou Women and Children's Medical Center; Guangzhou; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:30212; TANC2; Simple; p.Gln1441Ter (c.4321C>T); Zygosity=Heterozygous; Note=De novo mutation (PubMed=35066241).
Disease Lennox-Gastaut syndrome (NCIt: C84816)
Lennox-Gastaut syndrome (ORDO: Orphanet_2382)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2Y
Category Induced pluripotent stem cell
Publications

PubMed=35066241; DOI=10.1016/j.scr.2022.102667
Yang Tian, Zhen Shi, Yin-Ting Liao, Jia-Hao Cai, Wen-Juan Li, Xiao-Jing Li, Wen-Xiong Chen;
Generation of an induced pluripotent stem cell line (GWCMCi005-A) from a patient with Lennox-Gastaut syndrome carrying TANC2 Gln1441Ter mutation.
Stem Cell Res. 60:102667-102667(2022)

Cross-references
Cell line databases/resources hPSCreg; GWCMCi005-A
Biological sample resources BioSamples; SAMEA12075250
Encyclopedic resources Wikidata; Q112929635
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5