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Cellosaurus PSMi001-A (CVCL_WJ40)

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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
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 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