Cellosaurus cell line CALM1-F142L iPSC c2 (CVCL

Cellosaurus CALM1-F142L iPSC c2 (CVCL_A4TW)

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 Marcella Rocchetti, Luca Sala, Lisa Dreizehnter, Lia Crotti, Daniel Sinnecker, Manuela Mura, Luna Simona Pane, Claudia Altomare, Eleonora Torre, Gaspare Mostacciuolo, Stefano Severi ...Show all 18 authors... , Alberto Porta, Gaetano M. De Ferrari, Alfred L. George Jr., Peter J. Schwartz, Massimiliano Gnecchi, Alessandra Moretti, Antonio Zaza; Show fewer authors 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