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Cellosaurus LaNCE hiPSC-35 (CVCL_XD80)

[Text version]
Cell line name LaNCE hiPSC-35
Synonyms LANCEi011-A; iPS-35; iPS-35-LCS; iPS-PD/GD
Accession CVCL_XD80
Resource Identification Initiative To cite this cell line use: LaNCE hiPSC-35 (RRID:CVCL_XD80)
Comments From: National Laboratory of Embryonic Stem Cell (LaNCE), University of Sao Paulo; Sao Paulo; Brazil.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=31401455).
  • Mutation; HGNC; 4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (PubMed=31401455).
Disease Gaucher disease (NCIt: C61268)
Parkinson's disease (NCIt: C26845)
Gaucher disease (ORDO: Orphanet_355)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 51Y
Category Induced pluripotent stem cell
Publications

PubMed=31401455; DOI=10.1016/j.scr.2019.101519
Tofoli de Araujo F., Chien H.-F., Barbosa E.R., Pereira L.V.
Generation of three human induced pluripotent stem cell (hiPSC) lines derived from one Gaucher disease patient with Parkinson's disease and two unrelated Parkinson's disease patients with GBA mutations.
Stem Cell Res. 39:101519-101519(2019)

Cross-references
Cell line databases/resources hPSCreg; LANCEi011-A
Encyclopedic resources Wikidata; Q95981245
Entry history
Entry creation06-Sep-2019
Last entry update29-Jun-2023
Version number9