Cellosaurus cell line T9862-42 (CVCL

Cellosaurus T9862-42 (CVCL_RM63)

Cross-references
Cell line name	T9862-42
Synonyms	9862-42
Accession	CVCL_RM63
Resource Identification Initiative	To cite this cell line use: T9862-42 (RRID:CVCL_RM63)
Comments	Omics: Transcriptomics; 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_RM64 ! T9862-5 CVCL_RM60 ! T9862-35 CVCL_RM61 ! T9862-40 CVCL_RM62 ! T9862-41 CVCL_RM65 ! T9862-61
Sex of cell	Sex unspecified
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=21307850; DOI=10.1038/nature09855; PMCID=PMC3077925 Masayuki Yazawa, Brian Hsueh, Xiao-Lin Jia, Anca M. Pasca, Jonathan A. Bernstein, Joachim Hallmayer, Ricardo E. Dolmetsch; 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 Sergiu P. Pasca, Thomas Portmann, Irina Voineagu, Masayuki Yazawa, Aleksandr Shcheglovitov, Anca M. Pasca, Branden Cord, Theo D. Palmer, Sachiko Chikahisa, Seiji Nishino, Jonathan A. Bernstein ...Show all 14 authors... , Joachim Hallmayer, Daniel H. Geschwind, Ricardo E. Dolmetsch; Show fewer authors Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome. Nat. Med. 17:1657-1662(2011)
Cell line databases/resources	SKIP; SKIP000788
Encyclopedic resources	Wikidata; Q54971639
Gene expression databases	GEO; GSM627838
Entry history
Entry creation	05-Mar-2018
Last entry update	10-Apr-2025
Version number	11