ID   AP22P(SVT)
AC   CVCL_VH95
DR   JCRB; KURB1404
DR   Wikidata; Q54750207
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3582; FANCA; Simple; p.Ser849Phefs*40 (c.2546delC); ClinVar=VCV000408166; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:3582; FANCA; Simple; c.4168-2A>G (IVS41-2A>G) (p.Gly1390_Glu1420del); ClinVar=VCV000864280; Zygosity=Heterozygous; Note=Splice acceptor mutation (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_VH94 ! AP22P
SX   Female
AG   7Y
CA   Transformed cell line
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 13
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