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Cellosaurus MasterShef11 CMT2A_Het1 (CVCL_E3QL)

[Text version]
Cell line name MasterShef11 CMT2A_Het1
Accession CVCL_E3QL
Resource Identification Initiative To cite this cell line use: MasterShef11 CMT2A_Het1 (RRID:CVCL_E3QL)
Comments From: Centre for Stem Cell Biology, School of Biosciences, The University of Sheffield; Sheffield; United Kingdom.
Miscellaneous: Cell line information from personal communication of Jestice, Lydia H.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; HGNC:16877; MFN2; Simple_edited; p.Arg94Gln (c.281G>A); ClinVar=VCV000002268; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (Direct_author_submission).
Disease Charcot-Marie-Tooth disease type 2A2A (NCIt: C150646)
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (ORDO: Orphanet_99947)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_BW83 (MasterShef11)
Sex of cell Male
Age at sampling Blastocyst stage
Category Embryonic stem cell
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1