Cellosaurus cell line T7643-5 (CVCL

Cellosaurus T7643-5 (CVCL_RM58)

Cross-references
Cell line name	T7643-5
Synonyms	7643-5
Accession	CVCL_RM58
Resource Identification Initiative	To cite this cell line use: T7643-5 (RRID:CVCL_RM58)
Comments	Omics: Transcriptome analysis by microarray. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:1390; CACNA1C; Simple; p.Gly406Arg (c.1216G>A); ClinVar=VCV000017632; Zygosity=Unspecified (PubMed=21307850).
Disease	Long QT syndrome 8 (NCIt: C142894) Timothy syndrome (ORDO: Orphanet_65283)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_RM56 ! T7643-3 CVCL_RM59 ! T7643-7 CVCL_RM57 ! T7643-32
Sex of cell	Female
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=21307850; DOI=10.1038/nature09855; PMCID=PMC3077925 Yazawa M., Hsueh B., Jia X.-L., Pasca A.M., Bernstein J.A., Hallmayer J., Dolmetsch R.E. Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome. Nature 471:230-234(2011) PubMed=22120178; DOI=10.1038/nm.2576; PMCID=PMC3517299 Pasca S.P., Portmann T., Voineagu I., Yazawa M., Shcheglovitov A., Pasca A.M., Cord B., Palmer T.D., Chikahisa S., Nishino S., Bernstein J.A., Hallmayer J., Geschwind D.H., Dolmetsch R.E. Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome. Nat. Med. 17:1657-1662(2011)
Cell line databases/resources	SKIP; SKIP000787
Encyclopedic resources	Wikidata; Q54971614
Gene expression databases	GEO; GSM627825
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	10