ID   FA33P
AC   CVCL_VH90
DR   JCRB; KURB1394
DR   Wikidata; Q54833205
RX   DOI=10.1007/0-387-33776-8_11;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3582; FANCA; Simple; p.Met1Leu (c.1A>T); ClinVar=VCV000553965; Zygosity=Heterozygous (DOI=10.1007/0-387-33776-8_11).
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 (DOI=10.1007/0-387-33776-8_11).
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)
SX   Female
AG   4Y
CA   Finite cell line
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 11
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RX   DOI=10.1007/0-387-33776-8_11;
RA   Tachibana A.;
RT   "Mutational analyses of Fanconi anemia genes in Japanese patients.";
RL   (In book chapter) Molecular mechanisms of Fanconi anemia; Ahmad S.I., Kirk S.H. (eds.); pp.103-114; Springer; New York; USA (2006).
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