Cellosaurus cell line AP37P (CVCL

Cellosaurus AP37P (CVCL_JH25)

Cross-references
Cell line name	AP37P
Accession	CVCL_JH25
Resource Identification Initiative	To cite this cell line use: AP37P (RRID: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	Homo sapiens (Human) (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	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) PubMed=12065746; DOI=10.1126/science.1073834 Niall G. Howlett, Toshiyasu Taniguchi, Susan Olson, Barbara Cox, Quinten Waisfisz, Christine E.M. de Die-Smulders, Nicole Persky, Markus Grompe, Hans Joenje, Gerard Pals, Hideyuki Ikeda ...Show all 13 authors... , Edward A. Fox, Alan David D'Andrea; Show fewer authors Biallelic inactivation of BRCA2 in Fanconi anemia. Science 297:606-609(2002)
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