ID   T9862-61
AC   CVCL_RM65
SY   9862-61
DR   GEO; GSM627840
DR   SKIP; SKIP000790
DR   Wikidata; Q54971641
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: Transcriptome analysis by 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_RM64 ! T9862-5
OI   CVCL_RM60 ! T9862-35
OI   CVCL_RM61 ! T9862-40
OI   CVCL_RM62 ! T9862-41
OI   CVCL_RM63 ! T9862-42
SX   Sex unspecified
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 10
//
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).
//