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Cellosaurus PSMi001-A (CVCL_WJ40)

[Text version]
Cell line name PSMi001-A
Synonyms SA6.27-iPS; SA 6.27
Accession CVCL_WJ40
Resource Identification Initiative To cite this cell line use: PSMi001-A (RRID:CVCL_WJ40)
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=31398660).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 53Y
Category Induced pluripotent stem cell
Publications

PubMed=31398660; DOI=10.1016/j.scr.2019.101510
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 two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population.
Stem Cell Res. 39:101510-101510(2019)

Cross-references
Cell line databases/resources hPSCreg; PSMi001-A
Encyclopedic resources Wikidata; Q98128683
Entry history
Entry creation24-May-2019
Last entry update19-Dec-2024
Version number9