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Cellosaurus CMT2-FiPS4F1 (CVCL_JL72)

[Text version]
Cell line name CMT2-FiPS4F1
Accession CVCL_JL72
Resource Identification Initiative To cite this cell line use: CMT2-FiPS4F1 (RRID:CVCL_JL72)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Facultad de Biologia, Universidad de Valencia; Valencia; Spain.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 15968; GDAP1; Simple; p.Gln163Ter (c.487C>T); ClinVar=VCV000004193; Zygosity=Heterozygous (PubMed=28395795).
  • Mutation; HGNC; 15968; GDAP1; Simple; p.Thr288Asnfs*3 (c.862dupA); ClinVar=VCV000004194; Zygosity=Heterozygous (PubMed=28395795).
Disease Charcot-Marie-Tooth disease type 2K (NCIt: C133886)
Autosomal dominant Charcot-Marie-Tooth disease type 2K (ORDO: Orphanet_99944)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 45Y
Category Induced pluripotent stem cell
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/83/Caracteristicas%20-%20Solicitud_Deposito_CMT2_FiPS4F1.pdf
Publications

PubMed=28395795; DOI=10.1016/j.scr.2016.11.017
Marti S., Leon M., Orellana C., Prieto J., Ponsoda X., Lopez-Garcia C., Vilchez J.J., Sevilla T., Torres J.
Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene.
Stem Cell Res. 18:1-4(2017)

Cross-references
Encyclopedic resources Wikidata; Q54813851
Entry history
Entry creation15-May-2017
Last entry update29-Jun-2023
Version number13