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Cellosaurus PSMi002-A (CVCL_VE81)

[Text version]
Cell line name PSMi002-A
Synonyms HDF30-JLNS-iPS
Accession CVCL_VE81
Resource Identification Initiative To cite this cell line use: PSMi002-A (RRID:CVCL_VE81)
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.Arg190Trp (c.568C>T) (p.Arg63Trp, c.187C>T); ClinVar=VCV000053070; Zygosity=Heterozygous (PubMed=29677589).
  • Mutation; HGNC; 6294; KCNQ1; Simple; p.Arg594Gln (c.1781G>A); ClinVar=VCV000053018; Zygosity=Heterozygous (PubMed=29677589).
Disease Jervell and Lange Nielsen syndrome (NCIt: C84793)
Jervell and Lange-Nielsen syndrome (ORDO: Orphanet_90647)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 10Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=29677589

Markers:
F13A016,14
F13B8
FESFPS10
LPL10,11
Penta C11,13
Penta D10,13
Penta E8,15

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Publications

PubMed=29677589; DOI=10.1016/j.scr.2018.04.002
Mura M., Lee Y.-K., Ginevrino M., Zappatore R., Pisano F., Boni M., Dagradi F., Crotti L., Valente E.M., Schwartz P.J., Tse H.-F., Gnecchi M.
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene.
Stem Cell Res. 29:157-161(2018)

Cross-references
Cell line databases/resources hPSCreg; PSMi002-A
Encyclopedic resources Wikidata; Q54948581
Entry history
Entry creation14-May-2018
Last entry update29-Jun-2023
Version number14