Cellosaurus cell line CMT2-FiPS4F1 (CVCL

Cellosaurus CMT2-FiPS4F1 (CVCL_JL72)

Cross-references
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; HGNC:15968; GDAP1; Simple; p.Gln163Ter (c.487C>T); ClinVar=VCV000004193; Zygosity=Heterozygous (PubMed=28395795). Mutation; HGNC; 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)
Encyclopedic resources	Wikidata; Q54813851
Entry history
Entry creation	15-May-2017
Last entry update	19-Dec-2024
Version number	14