ID   MasterShef11 CMT2A_Hom1
AC   CVCL_F4CS
CC   From: Centre for Stem Cell Biology, School of Biosciences, The University of Sheffield; Sheffield; United Kingdom.
CC   Sequence variation: Mutation; HGNC; HGNC:16877; MFN2; Simple_edited; p.Arg94Gln (c.281G>A); ClinVar=VCV000002268; Zygosity=Homozygous; Note=By CRISPR/Cas9 (Direct_author_submission).
CC   Miscellaneous: Cell line information from personal communication of Jestice, Lydia H.
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C150646; Charcot-Marie-Tooth disease type 2A2A
DI   ORDO; Orphanet_99947; Autosomal dominant Charcot-Marie-Tooth disease type 2A2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_BW83 ! MasterShef11
SX   Male
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 25-06-26; Last updated: 25-06-26; Version: 1
//