Cellosaurus cell line INSAi001-A (CVCL

Cross-references
Cell line name	INSAi001-A
Synonyms	GD3-1
Accession	CVCL_YC29
Resource Identification Initiative	To cite this cell line use: INSAi001-A (RRID:CVCL_YC29)
Comments	From: Instituto Nacional de Saude Ricardo Jorge; Porto; Portugal. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Phe252Ile (c.754T>A) (F213I); ClinVar=VCV000004301; Zygosity=Heterozygous (PubMed=31678773). Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (PubMed=31678773).
Disease	Gaucher disease (NCIt: C61268) Gaucher disease (ORDO: Orphanet_355)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	27Y
Category	Induced pluripotent stem cell
Publications	PubMed=31678773; DOI=10.1016/j.scr.2019.101595 Ana Joana Duarte, Diogo Ribeiro, Renato Santos, Luciana Moreira, Jose Braganca, Olga Amaral; Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene. Stem Cell Res. 41:101595-101595(2019)
Cell line databases/resources	hPSCreg; INSAi001-A
Biological sample resources	BioSamples; SAMEA6358480
Encyclopedic resources	Wikidata; Q94318164
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	11