ID   GM26227
AC   CVCL_A2UY
DR   Coriell; GM26227
DR   Wikidata; Q105507072
WW   Info; -; -; https://eu.delawareonline.com/in-depth/news/health/2018/12/13/how-delaware-amish-nemours-doctors-harness-genetics-save-grace/2130218002/
CC   Population: Caucasian; Amish.
CC   Sequence variation: Mutation; HGNC; HGNC:12840; YARS1; Simple; p.Pro167Thr (c.499C>A); ClinVar=VCV000662296; Zygosity=Homozygous (Coriell=GM26227).
CC   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.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C176704; YARSopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3M
CA   Finite cell line
DT   Created: 12-01-21; Last updated: 10-04-25; Version: 8
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