ID   GM24559
AC   CVCL_Y801
SY   GM24559*B
DR   Coriell; GM24559
DR   SKIP; SKIP000705
DR   Wikidata; Q54853784
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2933; DMPK; Repeat_expansion; c.*224CTG[~1700] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (from parent cell line).
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)
HI   CVCL_Y794 ! GM04602
SX   Female
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 10
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