ID   AP68P(SVT)
AC   CVCL_ZX09
DR   JCRB; KURB1456
DR   Wikidata; Q102113566
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3582; FANCA; Simple; p.Arg435Cys (c.1303C>T); ClinVar=VCV000555603; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:3582; FANCA; Simple; p.Ser849Phefs*40 (c.2546delC); ClinVar=VCV000408166; 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; C125702; Fanconi anemia, complementation group A
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_ZX08 ! AP68P
SX   Male
AG   2Y
CA   Transformed cell line
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 9
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