|
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
|
- 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).
