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Cellosaurus NYSCF-AG0014-01-MR (CVCL_JX05)

[Text version]
Cell line name NYSCF-AG0014-01-MR
Synonyms AG0014-01-MR
Accession CVCL_JX05
Resource Identification Initiative To cite this cell line use: NYSCF-AG0014-01-MR (RRID:CVCL_JX05)
Comments From: New York Stem Cell Foundation; New York; USA.
Population: Caucasian.
Sequence variations
  • Mutation; HGNC; HGNC:12666; VCP; Simple; p.Gly97Glu (c.290G>A); ClinVar=VCV000218306; Zygosity=Unspecified (NYSCF).
Disease Charcot-Marie-Tooth disease type 2Y (NCIt: C168974)
Autosomal dominant Charcot-Marie-Tooth disease type 2Y (ORDO: Orphanet_435387)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Category Induced pluripotent stem cell
Cross-references
Encyclopedic resources Wikidata; Q54931399
Entry history
Entry creation22-Aug-2017
Last entry update19-Dec-2024
Version number9