Cellosaurus cell line FA32P (CVCL

Cross-references
Cell line name	FA32P
Accession	CVCL_VH83
Resource Identification Initiative	To cite this cell line use: FA32P (RRID:CVCL_VH83)
Comments	Population: Japanese. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:3588; FANCG; Simple; c.307+1G>C (IVS3+1G>C); ClinVar=VCV000006714; Zygosity=Homozygous; Note=Splice donor 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)
Sex of cell	Male
Age at sampling	6Y
Category	Finite cell line
Publications	DOI=10.1007/0-387-33776-8_11 Akira Tachibana; Mutational analyses of Fanconi anemia genes in Japanese patients. (In book chapter) Molecular mechanisms of Fanconi anemia; Ahmad, Shamim I. & Kirk, Sandra H. (eds.); pp.103-114; Springer; New York; USA (2006)
Cell line collections (Providers)	JCRB; KURB1482
Encyclopedic resources	Wikidata; Q54833204
Entry history
Entry creation	14-May-2018
Last entry update	19-Dec-2024
Version number	10