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Table 1 Description of cell lines used in the study

From: Parkin-mediated ubiquitination of mutant glucocerebrosidase leads to competition with its substrates PARIS and ARTS

Patient # Genotype Disease type Age (years) Sex
1 Normal Normal 57 F
2 Normal Normal UN* UN*
3 L444P/L444P 3 1 F
4 L444P/L444P 3 1 F
5 L444P/L444P 3 2 F
6 L444P/L444P 3 3 F
7 L444P/RecNci 2 1 M
8 N370S/N370S 1 43 F
9 R131C/R131C 2 1 month F
10 L444P/R120W 2 1 F
11 L444P/P415R 2 11 months F
12 N370S/N370S 1(severe) 11 M
13 N370S/V394L 1 30 M
14 K157Q/D140H_E326K 1 26 M
15 K157Q/D140H_E326K 1(severe) 13 M
  1. The table contains information on genotype, GD type, sex and age at diagnosis of the GD-derived fibroblast lines and normal fibroblasts. *UN-Unknown (biopsy was taken anonymously due to Israeli Helsinki requirements, with no tracking back information).