ID   T7643-32
AC   CVCL_RM57
SY   7643-32
DR   GEO; GSM627818
DR   SKIP; SKIP000791
DR   Wikidata; Q54971612
RX   PubMed=21307850;
RX   PubMed=22120178;
CC   Sequence variation: Mutation; HGNC; HGNC:1390; CACNA1C; Simple; p.Gly406Arg (c.1216G>A); ClinVar=VCV000017632; Zygosity=Unspecified (PubMed=21307850).
CC   Omics: Transcriptomics; Microarray.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C142894; Long QT syndrome 8
DI   ORDO; Orphanet_65283; Timothy syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_RM56 ! T7643-3
OI   CVCL_RM58 ! T7643-5
OI   CVCL_RM59 ! T7643-7
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 10-04-25; Version: 11
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RX   PubMed=21307850; DOI=10.1038/nature09855; PMCID=PMC3077925;
RA   Yazawa M., Hsueh B., Jia X.-L., Pasca A.M., Bernstein J.A.,
RA   Hallmayer J., Dolmetsch R.E.;
RT   "Using induced pluripotent stem cells to investigate cardiac
RT   phenotypes in Timothy syndrome.";
RL   Nature 471:230-234(2011).
//
RX   PubMed=22120178; DOI=10.1038/nm.2576; PMCID=PMC3517299;
RA   Pasca S.P., Portmann T., Voineagu I., Yazawa M., Shcheglovitov A.,
RA   Pasca A.M., Cord B., Palmer T.D., Chikahisa S., Nishino S.,
RA   Bernstein J.A., Hallmayer J., Geschwind D.H., Dolmetsch R.E.;
RT   "Using iPSC-derived neurons to uncover cellular phenotypes associated
RT   with Timothy syndrome.";
RL   Nat. Med. 17:1657-1662(2011).
//