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Table 1 Summary of fibroblast bank representing mutation carriers and noncarriers enrolled in the DIAN observational study

From: Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network

Gene

Mutation

Fibroblast lines

Families

Disease onset (yr)a

Disease course (yr)a

References

APP

KM670/671NL

3

1

52.3 ± 2.9

8.5 ± 3.5

[57]

I716M

1

1

55

21

[58]

V717 L

2

1

45.6 ± 1.2

9.33 ± 1.58

[57, 59,60,61,62]

V717I

4

3

47.8 ± 0.9

11.86 ± 0.99

[57, 63,64,65,66,67]

PSEN1

A79V

11

4

60.6 ± 1.8

13 ± 1.86

[17, 57, 66, 68, 69]

M84V

1

1

58.6 ± 1.36

20

[70]

K109*

1

1

39

17

N/A

N135Y

1

1

35.5 ± 4.5

9 ± 1

N/A

M139I

4

1

35.6 ± 0.6

7.75 ± 1.97

[57, 71]

M146L

1

1

39.3 ± 0.9

5.88 ± 1.09

[57, 59, 72,73,74]

H163R

7

3

46.1 ± 0.7

12.14 ± 1.3

[57, 75,76,77]

G206A

3

2

55.2 ± 1.3

11.6 ± 2.18

[57, 78]

G209E

1

1

53.25 ± 4.40

4.75 ± 0.48

[79]

G209V

1

1

52

10

[77]

S212Y

1

1

45.3 ± 2.2

14.5 ± 2.11

[57, 80]

H214Y

1

1

52.67 ± 2.67

9 ± 2

[52, 81]

G217R

3

1

44.6 ± 0.9

12.18 ± 2.19

[57, 82]

L226R

4

1

46.7 ± 1.8

8.67 ± 1.2

[57]

I229F

2

1

40 ± 2.1

18

[57]

S230N

1

1

57.3 ± 1.45

6.50 ± 2.5

N/A

A246E

2

1

49.1 ± 1.1

13.17 ± 2.63

[57, 83]

V261F

1

1

34 ± 1.2

15 ± 2

[57]

R269H

2

1

56.4 ± 2

10 ± 1

[57, 83]

F283L

3

1

41

11

N/A

Y288H

5

1

45.7 ± 1.7

17

[57]

C410Y

2

1

47.7 ± 1.1

9.88 ± 2.46

[57, 83]

A426P

1

1

43.36 ± 1.38

13.71 ± 1.11

[77]

A431E

1

1

39.4 ± 0.6

9 ± 0.86

[57, 84, 85]

PSEN2

R62Hb

1

1

63.5 ± 15.5

12

[13, 52, 54, 86]

R71Wb

2

1

66.50 ± 18.50

18.0 ± 10

[13, 87]

S130Lb

1

1

50.50 ± 3.5

18.50 ± 6.5

[52,53,54,55]

N141I

23

2

53.7 ± 0.6

10.23 ± 0.44

[57, 88, 89]

L238F

1

1

53 ± 4

20

[70]

  1. N/A Not available
  2. aMean ± SE
  3. bPathogenicity unclear
  4. *stop
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Alzheimer's Research & Therapy

ISSN: 1758-9193