Cellosaurus cell line LND554SV.3 (CVCL

Cross-references
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; 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	Provider; BNLC; -; https://www.isciii.es/documents/20119/4dbbb515-3176-3216-a9d5-6548c6777273
Publications	PubMed=27345786; DOI=10.1016/j.scr.2015.12.005 Teresa Galera-Monge, Francisco Zurita-Diaz, Cristina Gonzalez-Paramos, Ana Moreno-Izquierdo, Mario Fernandez Fraga, Agustin F. Fernandez, Rafael Garesse, Maria Esther Gallardo; Generation of a human iPSC line from a patient with Leigh syndrome. Stem Cell Res. 16:63-66(2016)
Encyclopedic resources	Wikidata; Q54902855
Entry history
Entry creation	23-Feb-2016
Last entry update	10-Apr-2025
Version number	14