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Cellosaurus PSMi007-A (CVCL_WG47)

[Text version]
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; 6294; KCNQ1; Simple; p.Ala341Val (c.1022C>T) (p.Ala214Val, c.641C>T); ClinVar=VCV000003121; Zygosity=Heterozygous (PubMed=30878014).
  • Mutation; HGNC; 16859; NOS1AP; Simple; chr1:g.162060117A>T; dbSNP=rs4657139; Zygosity=Homozygous (PubMed=30878014).
  • Mutation; 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)

Cross-references
Cell line databases/resources hPSCreg; PSMi007-A
Encyclopedic resources Wikidata; Q98128687
Entry history
Entry creation24-May-2019
Last entry update30-Jan-2024
Version number10