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Cellosaurus NYSCF-AG0011-01-MR (CVCL_JX02)

[Text version]
Cell line name NYSCF-AG0011-01-MR
Synonyms AG0011-01-MR
Accession CVCL_JX02
Resource Identification Initiative To cite this cell line use: NYSCF-AG0011-01-MR (RRID:CVCL_JX02)
Comments From: New York Stem Cell Foundation; New York; USA.
Population: Caucasian.
Sequence variations
  • Mutation; HGNC; HGNC:16873; FIG4; Simple; p.Ile41Thr (c.122T>C); ClinVar=VCV000001721; Zygosity=Unspecified (NYSCF).
  • Mutation; HGNC; HGNC:16873; FIG4; Simple; p.Arg183Ter (c.547C>T); ClinVar=VCV000001723; Zygosity=Unspecified (NYSCF).
Disease Charcot-Marie-Tooth disease type 4J (NCIt: C134954)
Charcot-Marie-Tooth disease type 4J (ORDO: Orphanet_139515)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Category Induced pluripotent stem cell
Cross-references
Encyclopedic resources Wikidata; Q54931396
Entry history
Entry creation22-Aug-2017
Last entry update19-Dec-2024
Version number10