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Cellosaurus NH50153 (CVCL_UX31)

[Text version]
Cell line name NH50153
Accession CVCL_UX31
Resource Identification Initiative To cite this cell line use: NH50153 (RRID:CVCL_UX31)
Comments Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Cell type: Erythroblast; CL=CL_0000765.
Sequence variations
  • Mutation; HGNC; HGNC:2933; DMPK; Repeat_expansion; c.*224CTG[238] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Unspecified (NHCDR=NH50153).
Disease Dystrophia myotonica 1 (NCIt: C84679)
Steinert myotonic dystrophy (ORDO: Orphanet_273)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_UX32 ! NH50154
CVCL_UX33 ! NH50155
Sex of cell Female
Age at sampling 29Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; NH50153
Encyclopedic resources Wikidata; Q98127579
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number10