ID   AP38P
AC   CVCL_JG62
DR   JCRB; KURB1431
DR   Wikidata; Q54750235
RX   DOI=10.1007/0-387-33776-8_11;
RX   PubMed=10090479;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 3582; FANCA; Simple; p.Ser849Phefs*40 (c.2546delC); ClinVar=VCV000408166; Zygosity=Homozygous (DOI=10.1007/0-387-33776-8_11; PubMed=10090479).
CC   Donor information: Established from monozygotic twin of AP38S (Cellosaurus=CVCL_JG63).
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   9Y
CA   Finite cell line
DT   Created: 15-05-17; Last updated: 29-06-23; 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) Molecular mechanisms of Fanconi anemia; Ahmad S.I., Kirk S.H. (eds.); pp.103-114; Springer; New York (2006).
//
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).
//