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Cellosaurus FDHSi003-A (CVCL_D6I1)

[Text version]
Cell line name FDHSi003-A
Accession CVCL_D6I1
Resource Identification Initiative To cite this cell line use: FDHSi003-A (RRID:CVCL_D6I1)
Comments From: Huashan Hospital of Fudan University; Shanghai; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 21698; RNF216; Simple; p.Glu650Ter (c.1948G>T); Zygosity=Homozygous (PubMed=38377650).
Disease Gordon Holmes syndrome (NCIt: C205640)
Cerebellar ataxia-hypogonadism syndrome (ORDO: Orphanet_1173)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 37Y
Category Induced pluripotent stem cell
Publications

PubMed=38377650; DOI=10.1016/j.scr.2024.103347
Xu W.-Q., Chen K.-L., Guo M., Dong Q., Cui M.
Establishment of FDHSi003-A, a human induced pluripotent stem cell (hiPSC) line with a mutation of RNF216 c.1948G > T.
Stem Cell Res. 76:103347-103347(2024)

Cross-references
Cell line databases/resources hPSCreg; FDHSi003-A
Biological sample resources BioSamples; SAMEA114663965
Encyclopedic resources Wikidata; Q127380852
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2