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Cellosaurus AP37P (CVCL_JH25)

[Text version]
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; 1101; BRCA2; Simple; p.Lys2729Asn (c.8187G>T) (8415G>T); ClinVar=VCV000038142; Zygosity=Heterozygous (PubMed=12065746).
  • Mutation; 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
Tachibana A., Kato T., Ejima Y., Yamada T., Shimizu T., Yang L.-C., Tsunematsu Y., Sasaki M.S.
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
Howlett N.G., Taniguchi T., Olson S., Cox B., Waisfisz Q., de Die-Smulders C.E.M., Persky N., Grompe M., Joenje H., Pals G., Ikeda H., Fox E.A., D'Andrea A.D.
Biallelic inactivation of BRCA2 in Fanconi anemia.
Science 297:606-609(2002)

Cross-references
Cell line collections (Providers) JCRB; JCRB3054 - Discontinued
JCRB; KURB1546
Encyclopedic resources Wikidata; Q54750226
Entry history
Entry creation15-May-2017
Last entry update29-Jun-2023
Version number14