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 Manuela Mura, Francesca Bastaroli, Marzia Corli, Monia Ginevrino, Federica Calabro, Marina Boni, Lia Crotti, Enza Maria Valente, Peter J. Schwartz, Massimiliano Gnecchi; 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