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Cellosaurus INSAi002-A (CVCL_YC30)

[Text version]

Cell line name INSAi002-A
Synonyms FD-1
Accession CVCL_YC30
Resource Identification Initiative To cite this cell line use: INSAi002-A (RRID:CVCL_YC30)
Comments From: Instituto Nacional de Saude Ricardo Jorge; Porto; Portugal.
Derived from sampling site: Skin.
Sequence variations Hemizygous for GLA p.Trp287Ter (c.861G>A) (ClinVar=VCV000010736) (PubMed=32388441).
Disease Fabry disease (NCIt: C84701)
Fabry disease (ORDO: Orphanet_324)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=32388441; DOI=10.1016/j.scr.2020.101794
Duarte A.J., Ribeiro D., Santos R., Moreira L., Braganca J., Amaral O.
Induced pluripotent stem cell line (INSAi002-A) from a Fabry disease patient hemizygote for the rare p.W287X mutation.
Stem Cell Res. 45:101794-101794(2020)

Cross-references
Cell line databases/resources hPSCreg; INSAi002-A
Biological sample resources BioSamples; SAMEA6724117
Other Wikidata; Q94318170
Entry history
Entry creation19-Dec-2019
Last entry update02-Jul-2020
Version number3