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Cellosaurus IMAGINi022-A (CVCL_A9SY)

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Cell line name IMAGINi022-A
Synonyms IMAGINE022
Accession CVCL_A9SY
Resource Identification Initiative To cite this cell line use: IMAGINi022-A (RRID:CVCL_A9SY)
Comments From: Imagine Institute; Paris; France.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:11190; SOX10; Simple; p.Pro175Ala (c.523C>G); Zygosity=Heterozygous (PubMed=32795927).
Disease Waardenburg syndrome (NCIt: C85222)
Waardenburg syndrome (ORDO: Orphanet_3440)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 20Y
Category Induced pluripotent stem cell
Publications

PubMed=32795927; DOI=10.1016/j.scr.2020.101936
Celine Banal, Eddy Quelennec, William Bertani-Torres, Nadjet Gacem, Jeanne Amiel, Sandrine Marlin, Florence Petit, Veronique Pingault, Nathalie Lefort, Nadege Bondurand;
Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment.
Stem Cell Res. 48:101936-101936(2020)

Cross-references
Cell line databases/resources hPSCreg; IMAGINi022-A
Biological sample resources BioSamples; SAMEA7248743
Encyclopedic resources Wikidata; Q102114219
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number6