Cellosaurus cell line FA46P (CVCL

Cross-references
Cell line name	FA46P
Accession	CVCL_VH93
Resource Identification Initiative	To cite this cell line use: FA46P (RRID:CVCL_VH93)
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; c.3766_3828del (Ex38del); Zygosity=Homozygous (DOI=10.1007/0-387-33776-8_11; PubMed=10090479).
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	Male
Age at sampling	10Y
Category	Finite cell line
Publications	PubMed=10090479; DOI=10.1002/(SICI)1098-1004(1999)13:3<237::AID-HUMU8>3.0.CO;2-F Akira Tachibana, Takesi Kato, Yosuke Ejima, Toshiko Yamada, Takashi Shimizu, Li-Chun Yang, Yukiko Tsunematsu, Masao S. Sasaki; The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability. Hum. Mutat. 13:237-244(1999) 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; KURB1400
Encyclopedic resources	Wikidata; Q54833209
Entry history
Entry creation	14-May-2018
Last entry update	19-Dec-2024
Version number	10