ID   NH50257
AC   CVCL_YP44
DR   NHCDR; NH50257
DR   Wikidata; Q98127714
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2933; DMPK; Repeat_expansion; c.*224CTG[1150] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Unspecified (NHCDR=NH50257).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
CC   Cell type: Erythroblast; CL=CL_0000765.
DI   NCIt; C84679; Dystrophia myotonica 1
DI   ORDO; Orphanet_273; Steinert myotonic dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_YP43 ! NH50256
OI   CVCL_YP45 ! NH50259
SX   Male
AG   7Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 9
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