ID   AP37P
AC   CVCL_JH25
DR   JCRB; JCRB3054
DR   JCRB; KURB1546
DR   Wikidata; Q54750226
RX   PubMed=10090479;
RX   PubMed=12065746;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 1101; BRCA2; Simple; p.Lys2729Asn (c.8187G>T) (8415G>T); ClinVar=VCV000038142; Zygosity=Heterozygous (PubMed=12065746).
CC   Sequence variation: Mutation; HGNC; 1101; BRCA2; Simple; p.Ser2835Ter (c.8504C>G) (8732C>A); ClinVar=VCV000267091; Zygosity=Heterozygous (PubMed=12065746).
CC   Discontinued: JCRB; JCRB3054; probable.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C62505; Fanconi anemia
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_WD00 ! AP37P(L)
OI   CVCL_A6IQ ! FA-AML1
OI   CVCL_JH26 ! FA-AML1A
OI   CVCL_A6IR ! FA-AML1C
SX   Male
AG   1Y
CA   Finite cell line
DT   Created: 15-05-17; Last updated: 29-06-23; Version: 14
//
RX   PubMed=10090479; DOI=10.1002/(SICI)1098-1004(1999)13:3<237::AID-HUMU8>3.0.CO;2-F;
RA   Tachibana A., Kato T., Ejima Y., Yamada T., Shimizu T., Yang L.-C.,
RA   Tsunematsu Y., Sasaki M.S.;
RT   "The FANCA gene in Japanese Fanconi anemia: reports of eight novel
RT   mutations and analysis of sequence variability.";
RL   Hum. Mutat. 13:237-244(1999).
//
RX   PubMed=12065746; DOI=10.1126/science.1073834;
RA   Howlett N.G., Taniguchi T., Olson S., Cox B., Waisfisz Q.,
RA   de Die-Smulders C.E.M., Persky N., Grompe M., Joenje H., Pals G.,
RA   Ikeda H., Fox E.A., D'Andrea A.D.;
RT   "Biallelic inactivation of BRCA2 in Fanconi anemia.";
RL   Science 297:606-609(2002).
//