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 Manuela Mura, Monia Ginevrino, Rita Zappatore, Federica Pisano, Marina Boni, Silvia Castelletti, Lia Crotti, Enza Maria Valente, Peter J. Schwartz, Massimiliano Gnecchi; 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