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Cellosaurus NYSCF-AG0002-01-MR (CVCL_B7E9)

[Text version]
Cell line name NYSCF-AG0002-01-MR
Synonyms AG0002-01-MR
Accession CVCL_B7E9
Resource Identification Initiative To cite this cell line use: NYSCF-AG0002-01-MR (RRID:CVCL_B7E9)
Comments From: New York Stem Cell Foundation; New York; USA.
Population: Caucasian.
Sequence variations
  • Mutation; HGNC; HGNC:16877; MFN2; Simple; p.His361Tyr (c.1081C>T); ClinVar=VCV000637315; 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 Male
Category Induced pluripotent stem cell
Cross-references
Encyclopedic resources Wikidata; Q114312618
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number4