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Cellosaurus NH50256 (CVCL_YP43)

[Text version]
Cell line name NH50256
Accession CVCL_YP43
Resource Identification Initiative To cite this cell line use: NH50256 (RRID:CVCL_YP43)
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[1150] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Unspecified (NHCDR=NH50256).
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_YP44 ! NH50257
CVCL_YP45 ! NH50259
Sex of cell Male
Age at sampling 7Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; NH50256
Encyclopedic resources Wikidata; Q98127713
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9