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Cellosaurus INSAi001-A (CVCL_YC29)

[Text version]
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; 4177; GBA1; Simple; p.Phe252Ile (c.754T>A) (F213I); ClinVar=VCV000004301; Zygosity=Heterozygous (PubMed=31678773).
  • Mutation; 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
Duarte A.J., Ribeiro D., Santos R., Moreira L., Braganca J., Amaral O.
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)

Cross-references
Cell line databases/resources hPSCreg; INSAi001-A
Biological sample resources BioSamples; SAMEA6358480
Encyclopedic resources Wikidata; Q94318164
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number10