ID   CENSOi068-A
AC   CVCL_E4FU
WW   Provider; Axol; -; https://axolbio.com/shop/disease-models/charcot-marie-tooth-disease-type-4j-cmt4j-censoi068-a/
CC   From: Axol Bioscience, Ltd (Censo Biotechnologies); Cambridge; United Kingdom.
CC   Sequence variation: Mutation; HGNC; HGNC:16873; FIG4; Simple; p.Ile41Thr (c.122T>C); ClinVar=VCV000001721; Zygosity=Heterozygous (Axol).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C134954; Charcot-Marie-Tooth disease type 4J
DI   ORDO; Orphanet_139515; Charcot-Marie-Tooth disease type 4J
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   27Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 10-04-25; Version: 2
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