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Cellosaurus NYSCF-AG0012-01-MR (CVCL_JX03)

[Text version]
Cell line name NYSCF-AG0012-01-MR
Synonyms AG0012-01-MR
Accession CVCL_JX03
Resource Identification Initiative To cite this cell line use: NYSCF-AG0012-01-MR (RRID:CVCL_JX03)
Comments From: New York Stem Cell Foundation; New York; USA.
Sequence variations
  • Mutation; HGNC; HGNC:4283; GJB1; Simple; p.Arg75Trp (c.223C>T); ClinVar=VCV000021082; Zygosity=Hemizygous (NYSCF).
Disease Charcot-Marie-Tooth neuropathy X type 1 (NCIt: C129068)
X-linked Charcot-Marie-Tooth disease type 1 (ORDO: Orphanet_101075)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Category Induced pluripotent stem cell
Cross-references
Encyclopedic resources Wikidata; Q54931397
Entry history
Entry creation22-Aug-2017
Last entry update19-Dec-2024
Version number7