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Cellosaurus CENSOi068-A (CVCL_E4FU)

[Text version]
Cell line name CENSOi068-A
Accession CVCL_E4FU
Resource Identification Initiative To cite this cell line use: CENSOi068-A (RRID:CVCL_E4FU)
Comments From: Axol Bioscience Ltd. (Censo Biotechnologies); Cambridge; United Kingdom.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:16873; FIG4; Simple; p.Ile41Thr (c.122T>C); ClinVar=VCV000001721; Zygosity=Heterozygous (Axol).
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
Age at sampling 27Y
Category Induced pluripotent stem cell
Web pages https://axolbio.com/shop/disease-models/charcot-marie-tooth-disease-type-4j-cmt4j-censoi068-a/
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1