Cellosaurus cell line T9862-5 (CVCL

Cellosaurus T9862-5 (CVCL_RM64)

Cross-references
Cell line name	T9862-5
Synonyms	9862-5
Accession	CVCL_RM64
Resource Identification Initiative	To cite this cell line use: T9862-5 (RRID:CVCL_RM64)
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_RM60 ! T9862-35 CVCL_RM61 ! T9862-40 CVCL_RM62 ! T9862-41 CVCL_RM63 ! T9862-42 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 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)
Encyclopedic resources	Wikidata; Q54971640
Gene expression databases	GEO; GSM627839
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	10