Cellosaurus cell line FA38P (CVCL

Cross-references
Cell line name	FA38P
Accession	CVCL_VH91
Resource Identification Initiative	To cite this cell line use: FA38P (RRID:CVCL_VH91)
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:3582; FANCA; Simple; p.Ser849Phefs*40 (c.2546delC); ClinVar=VCV000408166; Zygosity=Homozygous (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)
Originate from same individual	CVCL_VH92 ! FAL38P
Sex of cell	Male
Age at sampling	6Y
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 book chapter) Molecular mechanisms of Fanconi anemia; Ahmad S.I., Kirk S.H. (eds.); pp.103-114; Springer; New York; USA (2006)
Cell line collections (Providers)	JCRB; KURB1397
Encyclopedic resources	Wikidata; Q54833207
Entry history
Entry creation	14-May-2018
Last entry update	19-Dec-2024
Version number	9