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Cellosaurus REGUi003-A (CVCL_XC58)

[Text version]
Cell line name REGUi003-A
Synonyms WRN iPSC; WERNER iPSC
Accession CVCL_XC58
Resource Identification Initiative To cite this cell line use: REGUi003-A (RRID:CVCL_XC58)
Comments From: Institute for Regenerative Medecine and Biotherapy; Montpellier; France.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:12791; WRN; Simple; p.Tyr1263Ter (c.3789C>G); Zygosity=Homozygous (PubMed=31404747).
Disease Werner syndrome (NCIt: C3447)
Werner syndrome (ORDO: Orphanet_902)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 53Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=31404747

Markers:
AmelogeninX,Y
CSF1PO12
D3S135816,18
D5S81810,12
D7S8209
D8S117910,15
D13S31711,14
D16S53912,13
D18S5116,17
D21S1130,31
FGA21,23
Penta D11,14
Penta E5,13
TH017
TPOX8,9
vWA14,18

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Publications

CLPUB00552
Vincent Gatinois;
Pathologies of helicases and premature aging: study by derivation of induced pluripotent stem cells.
Thesis PhD (2017); Universite de Montpellier; Montpellier; France

PubMed=31404747; DOI=10.1016/j.scr.2019.101515
Vincent Gatinois, Romain Desprat, Fabienne Becker, Lydiane Pichard, Florence Bernex, Carole Corsini, Franck Pellestor, Jean-Marc Lemaitre;
Reprogramming of human peripheral blood mononuclear cell (PBMC) from a patient suffering of a Werner syndrome resulting in iPSC line (REGUi003-A) maintaining a short telomere length.
Stem Cell Res. 39:101515-101515(2019)

Cross-references
Cell line databases/resources hPSCreg; REGUi003-A
Encyclopedic resources Wikidata; Q98128894
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number7