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Cellosaurus NYSCF-AG0016-01-MR (CVCL_JX07)

[Text version]
Cell line name NYSCF-AG0016-01-MR
Synonyms AG0016-01-MR
Accession CVCL_JX07
Resource Identification Initiative To cite this cell line use: NYSCF-AG0016-01-MR (RRID:CVCL_JX07)
Comments From: New York Stem Cell Foundation; New York; USA.
Sequence variations
  • Mutation; HGNC; HGNC:7739; NEFL; Simple; p.Asn98Ser (c.293A>G); ClinVar=VCV000041236; Zygosity=Unspecified (NYSCF).
Disease Charcot-Marie-Tooth disease type 2E (NCIt: C134953)
Autosomal dominant Charcot-Marie-Tooth disease type 2E (ORDO: Orphanet_99939)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Category Induced pluripotent stem cell
Cross-references
Encyclopedic resources Wikidata; Q54931401
Entry history
Entry creation22-Aug-2017
Last entry update19-Dec-2024
Version number7