ID   CMT2-FiPS4F1
AC   CVCL_JL72
DR   Wikidata; Q54813851
RX   PubMed=28395795;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/83/Caracteristicas%20-%20Solicitud_Deposito_CMT2_FiPS4F1.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Facultad de Biologia, Universidad de Valencia; Valencia; Spain.
CC   Sequence variation: Mutation; HGNC; 15968; GDAP1; Simple; p.Gln163Ter (c.487C>T); ClinVar=VCV000004193; Zygosity=Heterozygous (PubMed=28395795).
CC   Sequence variation: Mutation; HGNC; 15968; GDAP1; Simple; p.Thr288Asnfs*3 (c.862dupA); ClinVar=VCV000004194; Zygosity=Heterozygous (PubMed=28395795).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C133886; Charcot-Marie-Tooth disease type 2K
DI   ORDO; Orphanet_99944; Autosomal dominant Charcot-Marie-Tooth disease type 2K
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 15-05-17; Last updated: 29-06-23; Version: 13
//
RX   PubMed=28395795; DOI=10.1016/j.scr.2016.11.017;
RA   Marti S., Leon M., Orellana C., Prieto J., Ponsoda X.,
RA   Lopez-Garcia C., Vilchez J.J., Sevilla T., Torres J.;
RT   "Generation of a disease-specific iPS cell line derived from a patient
RT   with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene.";
RL   Stem Cell Res. 18:1-4(2017).
//