Cellosaurus cell line FA5P (CVCL_VH84)

Home | Contact

Cross-references
Cell line name	FA5P
Accession	CVCL_VH84
Resource Identification Initiative	To cite this cell line use: FA5P (RRID:CVCL_VH84)
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.307+1G>C (IVS3+1G>C); ClinVar=VCV000006714; Zygosity=Heterozygous; Note=Splice donor mutation (DOI=10.1007/0-387-33776-8_11). Mutation; HGNC; 3588; FANCG; Simple; p.Gln356Ter (c.1066C>T); ClinVar=VCV000006715; Zygosity=Heterozygous (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)
Sex of cell	Female
Age at sampling	7Y
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)
Cell line collections (Providers)	JCRB; KURB1457
Encyclopedic resources	Wikidata; Q54833211
Entry history
Entry creation	14-May-2018
Last entry update	29-Jun-2023
Version number	11