ID   GM12123
AC   CVCL_JL93
DR   CLO; CLO_0019085
DR   Coriell; GM12123
DR   Wikidata; Q54845542
RX   PubMed=12730363;
CC   Population: Hispanic.
CC   Sequence variation: Mutation; HGNC; HGNC:13666; AAAS; Simple; c.1331+1G>A (IVS14+1G>A); ClinVar=VCV000264994; Zygosity=Unspecified; Note=Splice donor mutation (PubMed=12730363).
CC   Derived from site: In situ; Muscle; UBERON=UBERON_0001630.
CC   Cell type: Fibroblast of muscle; CL=CL_1001609.
DI   NCIt; C35710; Triple A syndrome
DI   ORDO; Orphanet_869; Triple A syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   25Y
CA   Finite cell line
DT   Created: 15-05-17; Last updated: 19-12-24; Version: 12
//
RX   PubMed=12730363; DOI=10.1073/pnas.1031047100; PMCID=PMC156285;
RA   Cronshaw J.M., Matunis M.J.;
RT   "The nuclear pore complex protein ALADIN is mislocalized in triple A
RT   syndrome.";
RL   Proc. Natl. Acad. Sci. U.S.A. 100:5823-5827(2003).
//