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Cellosaurus REGUi005-A (CVCL_YM44)

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Cell line name REGUi005-A
Synonyms RT iPSC; ROTHMUND THOMSON iPSC
Accession CVCL_YM44
Resource Identification Initiative To cite this cell line use: REGUi005-A (RRID:CVCL_YM44)
Comments From: Institute for Regenerative Medecine and Biotherapy; Montpellier; France.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9949; RECQL4; Simple; p.Gln757Ter (c.2269C>T); ClinVar=VCV000006063; Zygosity=Homozygous (CelloPub=CLPUB00552; PubMed=32416578).
Disease Rothmund-Thomson syndrome (NCIt: C3335)
Rothmund-Thomson syndrome (ORDO: Orphanet_2909)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 40Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=32416578

Markers:
AmelogeninX
CSF1PO11,13
D3S135815,18
D5S81812,13
D7S82010
D8S117910,13
D13S31711
D16S53912,13
D18S5112,14
D21S1130
FGA21,23
Penta D11,12
Penta E11,14
TH018,9
TPOX8,11
vWA16,19

Run an STR similarity search on this cell line
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=32416578; DOI=10.1016/j.scr.2020.101807
Vincent Gatinois, Romain Desprat, Lydiane Pichard, Fabienne Becker, Alice Goldenberg, Xavier Balguerie, Franck Pellestor, Jean-Marc Lemaitre;
iPSC reprogramming of fibroblasts from a patient with a Rothmund-Thomson syndrome RTS.
Stem Cell Res. 45:101807-101807(2020)

Cross-references
Cell line databases/resources hPSCreg; REGUi005-A
Encyclopedic resources Wikidata; Q98128896
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9