| Cell line name |
GM12543 |
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| Accession |
CVCL_5J82 |
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| Resource Identification Initiative |
To cite this cell line use: GM12543 (RRID:CVCL_5J82) |
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| Comments |
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178. |
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| Sequence variations |
- Mutation; HGNC; HGNC:560; AP1S2; Simple; c.426+1G>T (p.Val97_Glu142del); ClinVar=VCV000140457; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=23756445).
|
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Sex of cell |
Female |
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| Age at sampling |
Adult |
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| Category |
Transformed cell line |
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| 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) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM12543
|
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| Cell line databases/resources |
CLO; CLO_0017910
|
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| Encyclopedic resources |
Wikidata; Q54845850
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| Entry history |
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| Entry creation | 14-Dec-2015 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 12 |
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