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Cellosaurus FDCHi009-A (CVCL_C6TS)

[Text version]
Cell line name FDCHi009-A
Synonyms iPSCx-y-CHD7-m
Accession CVCL_C6TS
Resource Identification Initiative To cite this cell line use: FDCHi009-A (RRID:CVCL_C6TS)
Comments From: Children's Hospital of Fudan University; Shanghai; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:20626; CHD7; Simple; p.Leu980Pro (c.2939T>C); Zygosity=Heterozygous (PubMed=36502621).
Disease CHARGE syndrome (NCIt: C75100)
CHARGE syndrome (ORDO: Orphanet_138)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4M
Category Induced pluripotent stem cell
Publications

PubMed=36502621; DOI=10.1016/j.scr.2022.102996
Ting Peng, Yan Cheng, Man Xiong, Guo-Qiang Cheng;
Generation of a human iPSC line (FDCHi009-A) from a patient with CHARGE syndrome carrying a novel CHD7 mutation (c.2939 T > C).
Stem Cell Res. 66:102996-102996(2023)

Cross-references
Cell line databases/resources hPSCreg; FDCHi009-A
Encyclopedic resources Wikidata; Q117704333
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number3