ID   AP66P(L)
AC   CVCL_ZY13
DR   JCRB; KURB1491
DR   Wikidata; Q102113558
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3588; FANCG; Simple; c.307+1G>C (IVS3+1G>C); ClinVar=VCV000006714; Zygosity=Homozygous; Note=Splice donor mutation (from autologous cell line AP66P).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C125708; Fanconi anemia, complementation group G
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_ZY12 ! AP66P
SX   Male
AG   7Y
CA   Transformed cell line
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 7
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