ID   CALM1-F142L iPSC c2
AC   CVCL_A4TW
SY   iPSC F142L c2
DR   SKIP; SKIP003215
DR   Wikidata; Q107113556
RX   PubMed=28158429;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1442; CALM1; Simple; p.Phe142Leu (c.426C>G) (c.9406C>G); ClinVar=VCV000183231; Zygosity=Heterozygous (PubMed=28158429).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C177534; Long QT syndrome 14
DI   ORDO; Orphanet_768; Familial long QT syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A4TV ! CALM1-F142L iPSC c1
SX   Male
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=28158429; DOI=10.1093/cvr/cvx006;
RA   Rocchetti M., Sala L., Dreizehnter L., Crotti L., Sinnecker D.,
RA   Mura M., Pane L.S., Altomare C., Torre E., Mostacciuolo G., Severi S.,
RA   Porta A., De Ferrari G.M., George A.L. Jr., Schwartz P.J., Gnecchi M.,
RA   Moretti A., Zaza A.;
RT   "Elucidating arrhythmogenic mechanisms of long-QT syndrome CALM1-F142L
RT   mutation in patient-specific induced pluripotent stem cell-derived
RT   cardiomyocytes.";
RL   Cardiovasc. Res. 113:531-541(2017).
//