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Cellosaurus REGUi009-A (CVCL_A1QD)

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Cell line name REGUi009-A
Synonyms hiPS 5-9016
Accession CVCL_A1QD
Resource Identification Initiative To cite this cell line use: REGUi009-A (RRID:CVCL_A1QD)
Comments From: Institute for Regenerative Medecine and Biotherapy; Montpellier; France.
Population: Turkish.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2226; COLQ; Simple; p.Cys427Cys (c.1281C>T); ClinVar=VCV000536241; Zygosity=Homozygous; Note=Activates a cryptic splice site (PubMed=33370874).
Disease Congenital myasthenic syndrome (NCIt: C84647)
Congenital myasthenic syndrome (ORDO: Orphanet_590)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 28Y
Category Induced pluripotent stem cell
Publications

PubMed=33370874; DOI=10.1016/j.scr.2020.102106
Susie Barbeau, Romain Desprat, Bruno Eymard, Cecile Martinat, Jean-Marc Lemaitre, Claire Legay;
Generation of a human induced pluripotent stem cell line (iPSC) from peripheral blood mononuclear cells of a patient with a myasthenic syndrome due to mutation in COLQ.
Stem Cell Res. 49:102106-102106(2020)

Cross-references
Cell line databases/resources hPSCreg; REGUi009-A
Biological sample resources BioSamples; SAMEA7628702
Encyclopedic resources Wikidata; Q102114803
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number6