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Cellosaurus FA24P (CVCL_VH78)

[Text version]
Cell line name FA24P
Synonyms FA2KY
Accession CVCL_VH78
Resource Identification Initiative To cite this cell line use: FA24P (RRID:CVCL_VH78)
Comments Population: Japanese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 3588; FANCG; Simple; c.1761-2A>G (IVS13-2A>G); Zygosity=Homozygous; Note=Splice acceptor mutation (DOI=10.1007/0-387-33776-8_11).
Disease Fanconi anemia, complementation group G (NCIt: C125708)
Fanconi anemia (ORDO: Orphanet_84)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_VH79 (FA24(SVT))
Sex of cell Female
Age at sampling 6M
Category Finite cell line
Publications

DOI=10.1007/0-387-33776-8_11
Tachibana A.
Mutational analyses of Fanconi anemia genes in Japanese patients.
(In) Molecular mechanisms of Fanconi anemia; Ahmad S.I., Kirk S.H. (eds.); pp.103-114; Springer; New York (2006)

Cross-references
Cell line collections (Providers) JCRB; KURB1474
Encyclopedic resources Wikidata; Q54833195
Entry history
Entry creation14-May-2018
Last entry update29-Jun-2023
Version number10