Cellosaurus cell line PSMi007-A (CVCL

Cellosaurus PSMi007-A (CVCL_WG47)

Cross-references
Cell line name	PSMi007-A
Synonyms	SA13.5-iPS
Accession	CVCL_WG47
Resource Identification Initiative	To cite this cell line use: PSMi007-A (RRID:CVCL_WG47)
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.Ala341Val (c.1022C>T) (p.Ala214Val, c.641C>T); ClinVar=VCV000003121; Zygosity=Heterozygous (PubMed=30878014). Mutation; HGNC; HGNC:16859; NOS1AP; Simple; chr1:g.162060117A>T; dbSNP=rs4657139; Zygosity=Homozygous (PubMed=30878014). Mutation; HGNC; HGNC:16859; NOS1AP; Simple; chr1:g.162065484T>C (g.694T>C); dbSNP=rs16847548; Zygosity=Homozygous (PubMed=30878014).
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	64Y
Category	Induced pluripotent stem cell
Publications	PubMed=30878014; DOI=10.1016/j.scr.2019.101416 Manuela Mura, Federica Pisano, Manuela Stefanello, Monia Ginevrino, Marina Boni, Federica Calabro, Lia Crotti, Enza Maria Valente, Peter J. Schwartz, Paul A. Brink, Massimiliano Gnecchi; Generation of the human induced pluripotent stem cell (hiPSC) line PSMi007-A from a long QT syndrome type 1 patient carrier of two common variants in the NOS1AP gene. Stem Cell Res. 36:101416-101416(2019)
Cell line databases/resources	hPSCreg; PSMi007-A
Encyclopedic resources	Wikidata; Q98128687
Entry history
Entry creation	24-May-2019
Last entry update	19-Dec-2024
Version number	11