Cellosaurus cell line FA33P (CVCL_VH90)

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Cell line name	FA33P
Accession	CVCL_VH90
Resource Identification Initiative	To cite this cell line use: FA33P (RRID:CVCL_VH90)
Comments	Population: Japanese. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; 3582; FANCA; Simple; p.Met1Leu (c.1A>T); ClinVar=VCV000553965; Zygosity=Heterozygous (DOI=10.1007/0-387-33776-8_11). Mutation; HGNC; 3582; FANCA; Simple; c.2606-2A>T (IVS27-2A>T) (p.Phe868_Gln869del); ClinVar=VCV000555572; Zygosity=Heterozygous; Note=Splice acceptor mutation (DOI=10.1007/0-387-33776-8_11).
Disease	Fanconi anemia, complementation group A (NCIt: C125702) Fanconi anemia (ORDO: Orphanet_84)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	4Y
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; KURB1394
Encyclopedic resources	Wikidata; Q54833205
Entry history
Entry creation	14-May-2018
Last entry update	05-Oct-2023
Version number	10