Cellosaurus cell line iPSc-GD-A8 (CVCL

Cross-references
Cell line name	iPSc-GD-A8
Synonyms	GD iPSC A8; Gaucher iPSC-A8; A8
Accession	CVCL_IN10
Resource Identification Initiative	To cite this cell line use: iPSc-GD-A8 (RRID:CVCL_IN10)
Comments	Omics: Transcriptome analysis by microarray. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Gly241Arg (c.721G>A) (G202R); ClinVar=VCV000093459; Zygosity=Heterozygous (PubMed=23118351). Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (PubMed=23118351).
Disease	Gaucher disease (NCIt: C61268) Gaucher disease (ORDO: Orphanet_355)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_IN11 ! iPSc-GD-C21
Sex of cell	Male
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=23118351; DOI=10.1093/hmg/dds471 Tiscornia G., Vivas E.L., Matalonga L., Berniakovich I., Barragan Monasterio M., Eguizabal Argaiz C., Gort L., Gonzalez F., Ortiz Mellet C., Garcia-Fernandez J.M., Ribes A., Veiga A., Izpisua Belmonte J.C. Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds. Hum. Mol. Genet. 22:633-645(2013)
Encyclopedic resources	Wikidata; Q54898224
Gene expression databases	GEO; GSM1012130
Entry history
Entry creation	01-Dec-2016
Last entry update	19-Dec-2024
Version number	16