Cellosaurus cell line (CVCL

Cross-references
Accession	CVCL_JH25
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:1101; BRCA2; Simple; p.Lys2729Asn (c.8187G>T) (8415G>T); ClinVar=VCV000038142; Zygosity=Heterozygous (PubMed=12065746). Mutation; HGNC; HGNC:1101; BRCA2; Simple; p.Ser2835Ter (c.8504C>G) (8732C>A); ClinVar=VCV000267091; Zygosity=Heterozygous (PubMed=12065746).
Disease	Fanconi anemia (NCIt: C62505) Fanconi anemia (ORDO: Orphanet_84)
Species of origin	Mus musculus (Mouse) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_WD00 ! AP37P(L) CVCL_A6IQ ! FA-AML1 CVCL_JH26 ! FA-AML1A CVCL_A6IR ! FA-AML1C
Sex of cell	Male
Age at sampling	1Y
Category	Finite cell line
Publications	James Alexander Thomson, Joseph Itskovitz-Eldor, Sander S. Shapiro, Michelle A. Waknitz, Jennifer J. Swiergiel, Vivienne S. Marshall, Jeffrey M. Jones; Embryonic stem cell lines derived from human blastocysts. Science 282:1145-1147(1998) Hum. Mol. Genet. 29:967-979(2020)
Cell line collections (Providers)	JCRB; JCRB3054 - Discontinued JCRB; KURB1546
Encyclopedic resources	Wikidata; Q54750226
Entry history
Entry creation	15-May-2017
Last entry update	19-Dec-2024
Version number	15