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 Mura M., Pisano F., Stefanello M., Ginevrino M., Boni M., Calabro F., Crotti L., Valente E.M., Schwartz P.J., Brink P.A., Gnecchi M. 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