ID   GM12543
AC   CVCL_5J82
DR   CLO; CLO_0017910
DR   Coriell; GM12543
DR   Wikidata; Q54845850
RX   PubMed=1746558;
RX   PubMed=23756445;
CC   Sequence variation: Mutation; HGNC; HGNC:560; AP1S2; Simple; c.426+1G>T (p.Val97_Glu142del); ClinVar=VCV000140457; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=23756445).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Adult
CA   Transformed cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 12
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RX   PubMed=1746558; PMCID=PMC1686460;
RA   Huang T.H.-M., Hejtmancik J.F., Edwards A., Pettigrew A.L.,
RA   Herrera C.A., Hammond H.A., Caskey C.T., Zoghbi H.Y., Ledbetter D.H.;
RT   "Linkage of the gene for an X-linked mental retardation disorder to a
RT   hypervariable (AGAT)n repeat motif within the human hypoxanthine
RT   phosphoribosyltransferase (HPRT) locus (Xq26).";
RL   Am. J. Hum. Genet. 49:1312-1319(1991).
//
RX   PubMed=23756445; DOI=10.1038/ejhg.2013.135; PMCID=PMC3925263;
RA   Cacciagli P., Desvignes J.-P., Girard N., Delepine M., Zelenika D.,
RA   Lathrop M., Levy N., Ledbetter D.H., Dobyns W.B., Villard L.;
RT   "AP1S2 is mutated in X-linked Dandy-Walker malformation with
RT   intellectual disability, basal ganglia disease and seizures (Pettigrew
RT   syndrome).";
RL   Eur. J. Hum. Genet. 22:363-368(2014).
//