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Cellosaurus PSMi002-A (CVCL_VE81)

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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
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
Manuela Mura, Yee-Ki Lee, Monia Ginevrino, Rita Zappatore, Federica Pisano, Marina Boni, Federica Dagradi, Lia Crotti, Enza Maria Valente, Peter J. Schwartz, Hung-Fat Tse, Massimiliano Gnecchi;
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 update19-Dec-2024
Version number15