Cellosaurus cell line PSMi003-A (CVCL

Cross-references
Cell line name	PSMi003-A
Synonyms	HDF32-ARLQT-iPS
Accession	CVCL_VE98
Resource Identification Initiative	To cite this cell line use: PSMi003-A (RRID:CVCL_VE98)
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=29684900).
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	51Y
Category	Induced pluripotent stem cell
Publications	PubMed=29684900; DOI=10.1016/j.scr.2018.04.003 Mura M., Ginevrino M., Zappatore R., Pisano F., Boni M., Castelletti S., Crotti L., Valente E.M., Schwartz P.J., Gnecchi M. Generation of the human induced pluripotent stem cell (hiPSC) line PSMi003-A from a patient affected by an autosomal recessive form of long QT syndrome type 1. Stem Cell Res. 29:170-173(2018)
Cell line databases/resources	hPSCreg; PSMi003-A
Encyclopedic resources	Wikidata; Q54948582
Entry history
Entry creation	14-May-2018
Last entry update	19-Dec-2024
Version number	11