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Cellosaurus REGUi004-A (CVCL_YM43)

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Cell line name REGUi004-A
Synonyms BLM iPSC; BLOOM iPSC
Accession CVCL_YM43
Resource Identification Initiative To cite this cell line use: REGUi004-A (RRID:CVCL_YM43)
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:1058; BLM; Simple; p.Ser706Leufs*11 (c.2116delT); Zygosity=Homozygous (PubMed=31918214).
Disease Bloom syndrome (NCIt: C2903)
Bloom syndrome (ORDO: Orphanet_125)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 18Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=31918214

Markers:
AmelogeninX
CSF1PO11
D3S135815,17
D5S81812,13
D7S82010,11
D8S117912,13
D13S3178,12
D16S53913
D18S5114
D21S1128,32
FGA20,25
Penta D9,11
Penta E7
TH019,9.3
TPOX8,9
vWA16

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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=31918214; DOI=10.1016/j.scr.2019.101696
Vincent Gatinois, Romain Desprat, Fabienne Becker, Lydiane Pichard, Florence Bernex, Bertrand Isidor, Franck Pellestor, Jean-Marc Lemaitre;
iPSC line derived from a Bloom syndrome patient retains an increased disease-specific sister-chromatid exchange activity.
Stem Cell Res. 43:101696-101696(2020)

Cross-references
Cell line databases/resources hPSCreg; REGUi004-A
Encyclopedic resources Wikidata; Q98128895
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number6