ID   NH50156
AC   CVCL_UX34
DR   NHCDR; NH50156
DR   Wikidata; Q98127583
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2933; DMPK; Repeat_expansion; c.*224CTG[150] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Unspecified (NHCDR=NH50156).
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_UX35 ! NH50157
OI   CVCL_UX36 ! NH50158
SX   Female
AG   38Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 10
//