ID   AP31P(SVT)
AC   CVCL_VH89
DR   JCRB; KURB1414
DR   Wikidata; Q54750220
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3582; FANCA; Simple; c.2504+134A>G (IVS26+134A>G); ClinVar=VCV000974137; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:3582; FANCA; Simple; c.2606-2A>T (IVS27-2A>T) (p.Phe868_Gln869del); ClinVar=VCV000555572; 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_VH88 ! AP31P
SX   Male
AG   5Y
CA   Transformed cell line
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 13
//