Cellosaurus cell line PSMi004-A (CVCL

Cross-references
Cell line name	PSMi004-A
Synonyms	HDF28-LQT1-iPS
Accession	CVCL_WJ36
Resource Identification Initiative	To cite this cell line use: PSMi004-A (RRID:CVCL_WJ36)
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.Arg594Gln (c.1781G>A); ClinVar=VCV000053018; Zygosity=Heterozygous (PubMed=30974404).
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	40Y
Category	Induced pluripotent stem cell
Publications	PubMed=30974404; DOI=10.1016/j.scr.2019.101431 Manuela Mura, Yee-Ki Lee, Federica Pisano, Monia Ginevrino, Marina Boni, Federica Calabro, Lia Crotti, Enza Maria Valente, Peter J. Schwartz, Hung-Fat Tse, Massimiliano Gnecchi; Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation. Stem Cell Res. 37:101431-101431(2019)
Cell line databases/resources	hPSCreg; PSMi004-A
Encyclopedic resources	Wikidata; Q98128684
Entry history
Entry creation	24-May-2019
Last entry update	19-Dec-2024
Version number	8