ID   AP2P(SVT)
AC   CVCL_ZY20
DR   JCRB; KURB1484
DR   Wikidata; Q102113532
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3588; FANCG; Simple; c.307+1G>C (IVS3+1G>C); ClinVar=VCV000006714; Zygosity=Heterozygous; Note=Splice donor mutation (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:3588; FANCG; Simple; p.Gln356Ter (c.1066C>T); ClinVar=VCV000006715; Zygosity=Heterozygous (from parent cell line).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pSVori-).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C125708; Fanconi anemia, complementation group G
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_ZY19 ! AP2P
SX   Female
AG   6Y
CA   Transformed cell line
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 10
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