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Cellosaurus GM12123 (CVCL_JL93)

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Cell line name GM12123
Accession CVCL_JL93
Resource Identification Initiative To cite this cell line use: GM12123 (RRID:CVCL_JL93)
Comments Population: Hispanic.
Derived from site: In situ; Muscle; UBERON=UBERON_0001630.
Cell type: Fibroblast of muscle; CL=CL_1001609.
Sequence variations
  • Mutation; HGNC; HGNC:13666; AAAS; Simple; c.1331+1G>A (IVS14+1G>A); ClinVar=VCV000264994; Zygosity=Unspecified; Note=Splice donor mutation (PubMed=12730363).
Disease Triple A syndrome (NCIt: C35710)
Triple A syndrome (ORDO: Orphanet_869)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 25Y
Category Finite cell line
Publications

PubMed=12730363; DOI=10.1073/pnas.1031047100; PMCID=PMC156285
Janet M. Cronshaw, Michael J. Matunis;
The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome.
Proc. Natl. Acad. Sci. U.S.A. 100:5823-5827(2003)

Cross-references
Cell line collections (Providers) Coriell; GM12123
Cell line databases/resources CLO; CLO_0019085
Encyclopedic resources Wikidata; Q54845542
Entry history
Entry creation15-May-2017
Last entry update19-Dec-2024
Version number12