ID   GM04602
AC   CVCL_Y794
DR   CLO; CLO_0018907
DR   Coriell; GM04602
DR   Wikidata; Q54838588
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2933; DMPK; Repeat_expansion; c.*224CTG[~1700] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (from autologous cell line GM06077).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84679; Dystrophia myotonica 1
DI   ORDO; Orphanet_273; Steinert myotonic dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_Y800 ! GM06077
SX   Female
AG   2Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 11
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