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Cellosaurus LND554SV.3 (CVCL_AB83)

[Text version]
Cell line name LND554SV.3
Accession CVCL_AB83
Resource Identification Initiative To cite this cell line use: LND554SV.3 (RRID:CVCL_AB83)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Instituto de Investigaciones Biomedicas Alberto Sols; Madrid; Spain.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 7461; MT-ND5; Simple; p.Asp393Asn (m.13513G>A); ClinVar=VCV000009702; Zygosity=Heteroplasmic (PubMed=27345786).
Disease Leigh disease (NCIt: C84814)
Leigh syndrome (ORDO: Orphanet_506)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 9M
Category Induced pluripotent stem cell
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/77/Caracteristicas%20-%20SOLICITUD_DEPOSITO_LND554SV3_FIRMADA.pdf
Publications

PubMed=27345786; DOI=10.1016/j.scr.2015.12.005
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.
Stem Cell Res. 16:63-66(2016)

Cross-references
Encyclopedic resources Wikidata; Q54902855
Entry history
Entry creation23-Feb-2016
Last entry update29-Jun-2023
Version number12