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Cellosaurus HPS2894 (CVCL_UP24)

Cell line name HPS2894
Accession CVCL_UP24
Resource Identification Initiative To cite this cell line use: HPS2894 (RRID:CVCL_UP24)
Comments Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4241; GFPT1; Unexplicit; Not described; Zygosity=Unspecified (RCB=HPS2894).
Disease Congenital myasthenic syndrome 12 (NCIt: C168997)
Congenital myasthenic syndromes with glycosylation defect (ORDO: Orphanet_353327)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A3WP ! HPS2895
CVCL_A3WQ ! HPS2896
CVCL_A3WR ! HPS2897
CVCL_A3WS ! HPS2898
CVCL_A3WT ! HPS2899
Sex of cell Male
Age at sampling 20-29Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) RCB; HPS2894
Encyclopedic resources Wikidata; Q94220326
Entry history
Entry creation25-Feb-2019
Last entry update29-Jun-2023
Version number7