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Cellosaurus L749.1 (CVCL_DR24)

[Text version]
Cell line name L749.1
Accession CVCL_DR24
Resource Identification Initiative To cite this cell line use: L749.1 (RRID:CVCL_DR24)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Instituto de Investigaciones Biomedicas Alberto Sols; Madrid; Spain.
Population: Chinese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 7414; MT-ATP6; Simple; p.Leu156Arg (m.8993T>G); ClinVar=VCV000009641; Zygosity=Unspecified (PubMed=27346203).
Disease Leigh disease (NCIt: C84814)
Leigh syndrome (ORDO: Orphanet_506)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_8A61 (GM13411)
Sex of cell Male
Age at sampling 8M
Category Induced pluripotent stem cell
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/71/Caracteristicas%20-%20Documento_SOLICITUD_DE_DEPOSITO_L749_1.pdf
Publications

PubMed=27346203; DOI=10.1016/j.scr.2016.04.012
Galera-Monge T., Zurita-Diaz F., Gonzalez-Paramos C., Moreno-Izquierdo A., Fraga M.F., Fernandez A.F., Garesse R., Gallardo M.E.
Generation of a human iPSC line from a patient with Leigh syndrome caused by a mutation in the MT-ATP6 gene.
Stem Cell Res. 16:766-769(2016)

Cross-references
Encyclopedic resources Wikidata; Q54901837
Entry history
Entry creation13-Jul-2016
Last entry update29-Jun-2023
Version number12