ID   AP37P(L)
AC   CVCL_WD00
DR   JCRB; JCRB3056
DR   JCRB; KURB1549
DR   Wikidata; Q93325504
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 1101; BRCA2; Simple; p.Lys2729Asn (c.8187G>T) (8415G>T); ClinVar=VCV000038142; Zygosity=Heterozygous (from autologous cell line AP37P).
CC   Sequence variation: Mutation; HGNC; 1101; BRCA2; Simple; p.Ser2835Ter (c.8504C>G) (8732C>A); ClinVar=VCV000267091; Zygosity=Heterozygous (from autologous cell line AP37P).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Discontinued: JCRB; JCRB3056; probable.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C62505; Fanconi anemia
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_JH25 ! AP37P
OI   CVCL_A6IQ ! FA-AML1
OI   CVCL_JH26 ! FA-AML1A
OI   CVCL_A6IR ! FA-AML1C
SX   Male
AG   1Y
CA   Transformed cell line
DT   Created: 24-05-19; Last updated: 02-05-24; Version: 10
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