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Cellosaurus GM26227 (CVCL_A2UY)

[Text version]
Cell line name GM26227
Accession CVCL_A2UY
Resource Identification Initiative To cite this cell line use: GM26227 (RRID:CVCL_A2UY)
Comments Population: Caucasian; Amish.
Donor information: Established from the skin fibroblast of Grace Miller, the seventh member of a Dover Amish family to be diagnosed with what is known now as YARSopathy.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12840; YARS1; Simple; p.Pro167Thr (c.499C>A); ClinVar=VCV000662296; Zygosity=Homozygous (Coriell=GM26227).
Disease YARSopathy (NCIt: C176704)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 3M
Category Finite cell line
Web pages https://eu.delawareonline.com/in-depth/news/health/2018/12/13/how-delaware-amish-nemours-doctors-harness-genetics-save-grace/2130218002/
Cross-references
Cell line collections (Providers) Coriell; GM26227
Encyclopedic resources Wikidata; Q105507072
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number7