Cellosaurus cell line CALM1-F142L iPSC c2 (CVCL

Cross-references
Cell line name	CALM1-F142L iPSC c2
Synonyms	iPSC F142L c2
Accession	CVCL_A4TW
Resource Identification Initiative	To cite this cell line use: CALM1-F142L iPSC c2 (RRID:CVCL_A4TW)
Comments	Population: Caucasian. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:1442; CALM1; Simple; p.Phe142Leu (c.426C>G) (c.9406C>G); ClinVar=VCV000183231; Zygosity=Heterozygous (PubMed=28158429).
Disease	Long QT syndrome 14 (NCIt: C177534) Familial long QT syndrome (ORDO: Orphanet_768)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_A4TV ! CALM1-F142L iPSC c1
Sex of cell	Male
Age at sampling	14Y
Category	Induced pluripotent stem cell
Publications	PubMed=28158429; DOI=10.1093/cvr/cvx006 Rocchetti M., Sala L., Dreizehnter L., Crotti L., Sinnecker D., Mura M., Pane L.S., Altomare C., Torre E., Mostacciuolo G., Severi S., Porta A., De Ferrari G.M., George A.L. Jr., Schwartz P.J., Gnecchi M., Moretti A., Zaza A. Elucidating arrhythmogenic mechanisms of long-QT syndrome CALM1-F142L mutation in patient-specific induced pluripotent stem cell-derived cardiomyocytes. Cardiovasc. Res. 113:531-541(2017)
Cell line databases/resources	SKIP; SKIP003215
Encyclopedic resources	Wikidata; Q107113556
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	6