Cellosaurus cell line PSMi006-A (CVCL

Cross-references
Cell line name	PSMi006-A
Synonyms	HDF39-ARLQT-iPS
Accession	CVCL_WJ37
Resource Identification Initiative	To cite this cell line use: PSMi006-A (RRID:CVCL_WJ37)
Comments	From: Institution Fondazione IRCCS Policlinico San Matteo; Pavia; Italy. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:6294; KCNQ1; Simple; p.Gly179Ser (c.535G>A); ClinVar=VCV000053063; Zygosity=Homozygous (PubMed=31785541).
Disease	Long QT syndrome 1 (NCIt: C85049) Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	40Y
Category	Induced pluripotent stem cell
Publications	PubMed=31785541; DOI=10.1016/j.scr.2019.101658 Mura M., Bastaroli F., Corli M., Ginevrino M., Calabro F., Boni M., Crotti L., Valente E.M., Schwartz P.J., Gnecchi M. Generation of the human induced pluripotent stem cell (hiPSC) line PSMi006-A from a patient affected by an autosomal recessive form of long QT syndrome type 1. Stem Cell Res. 42:101658-101658(2020)
Cell line databases/resources	hPSCreg; PSMi006-A
Encyclopedic resources	Wikidata; Q98128686
Entry history
Entry creation	24-May-2019
Last entry update	19-Dec-2024
Version number	9