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Cellosaurus NYSCF-AG0008-01-MR (CVCL_JW99)

[Text version]
Cell line name NYSCF-AG0008-01-MR
Synonyms AG0008-01-MR
Accession CVCL_JW99
Resource Identification Initiative To cite this cell line use: NYSCF-AG0008-01-MR (RRID:CVCL_JW99)
Comments From: New York Stem Cell Foundation; New York; USA.
Population: Caucasian.
Sequence variations
  • Mutation; HGNC; HGNC:16877; MFN2; Simple; p.Trp740Ser (c.2219G>C); ClinVar=VCV000002269; Zygosity=Unspecified (NYSCF).
Disease Charcot-Marie-Tooth disease type 2A2A (NCIt: C150646)
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (ORDO: Orphanet_99947)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Category Induced pluripotent stem cell
Cross-references
Encyclopedic resources Wikidata; Q54931393
Entry history
Entry creation22-Aug-2017
Last entry update19-Dec-2024
Version number9