Cellosaurus cell line LaNCE hiPSC-35 (CVCL

Cross-references
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; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=31401455). Mutation; HGNC; 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)
Cell line databases/resources	hPSCreg; LANCEi011-A
Encyclopedic resources	Wikidata; Q95981245
Entry history
Entry creation	06-Sep-2019
Last entry update	19-Dec-2024
Version number	10