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Cellosaurus GM12523 (CVCL_5J64)

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Cell line name GM12523
Accession CVCL_5J64
Resource Identification Initiative To cite this cell line use: GM12523 (RRID:CVCL_5J64)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:560; AP1S2; Simple; c.426+1G>T (p.Val97_Glu142del); ClinVar=VCV000140457; Zygosity=Hemizygous; Note=Splice donor mutation (PubMed=23756445).
Disease Pettigrew syndrome (NCIt: C124839)
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome (ORDO: Orphanet_1568)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Transformed cell line
Publications

PubMed=1746558; PMCID=PMC1686460
Tim Hui-Ming Huang, J. Fielding Hejtmancik, Al Edwards, Anjana L. Pettigrew, Carlos A. Herrera, Holly A. Hammond, Charles Thomas Caskey, Huda Yahya Zoghbi, David Hamilton Ledbetter;
Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26).
Am. J. Hum. Genet. 49:1312-1319(1991)

PubMed=23756445; DOI=10.1038/ejhg.2013.135; PMCID=PMC3925263
Pierre Cacciagli, Jean-Pierre Desvignes, Nadine Girard, Marc Delepine, Diana Zelenika, Mark Lathrop, Nicolas Levy, David Hamilton Ledbetter, William B. Dobyns, Laurent Villard;
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).
Eur. J. Hum. Genet. 22:363-368(2014)

Cross-references
Cell line collections (Providers) Coriell; GM12523
Cell line databases/resources CLO; CLO_0017884
Encyclopedic resources Wikidata; Q54845828
Entry history
Entry creation14-Dec-2015
Last entry update19-Dec-2024
Version number12