ID   AP31P
AC   CVCL_VH88
DR   JCRB; KURB1413
DR   Wikidata; Q54750218
RX   DOI=10.1007/0-387-33776-8_11;
RX   PubMed=10090479;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3582; FANCA; Simple; c.2504+134A>G (IVS26+134A>G); ClinVar=VCV000974137; Zygosity=Heterozygous (DOI=10.1007/0-387-33776-8_11; PubMed=10090479).
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; PubMed=10090479).
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   Male
AG   5Y
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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RX   PubMed=10090479; DOI=10.1002/(SICI)1098-1004(1999)13:3<237::AID-HUMU8>3.0.CO;2-F;
RA   Tachibana A., Kato T., Ejima Y., Yamada T., Shimizu T., Yang L.-C.,
RA   Tsunematsu Y., Sasaki M.S.;
RT   "The FANCA gene in Japanese Fanconi anemia: reports of eight novel
RT   mutations and analysis of sequence variability.";
RL   Hum. Mutat. 13:237-244(1999).
//