Gene Mutation Sample List

Coriell Institute for Medical Research

Gene Sample List

Please click on the Excel icon at the upper right to obtain an excel file of the detailed Clinical Data Elements (phenotypic characterizations) for these samples.

Records Return: (53)

Show

1

Catalog ID

Description

Allele 1

Allele 2

Cell Type

Sex

Age

Race

Affected

FRIEDREICH ATAXIA 1; FRDA

380

330

Fibroblast

Female

36 YR

White

Yes

FRIEDREICH ATAXIA 1; FRDA

541

420

Fibroblast

Male

30 YR

White

Yes

FRIEDREICH ATAXIA 1; FRDA

541

420

B-Lymphocyte

Male

30 YR

White

Yes

FRIEDREICH ATAXIA 1; FRDA

1122

925

B-Lymphocyte

Female

Yes

FRIEDREICH ATAXIA 1; FRDA

1285

9

B-Lymphocyte

Female

FRIEDREICH ATAXIA 1; FRDA

760

7 to 20 (normal range)

B-Lymphocyte

Female

45 YR

No

FRIEDREICH ATAXIA 1; FRDA

830

7 to 20 (normal range)

B-Lymphocyte

Male

46 YR

White

No

FRIEDREICH ATAXIA 1; FRDA

920

7 to 20 (normal range)

B-Lymphocyte

Male

10 YR

White

No

FRIEDREICH ATAXIA 1; FRDA

1030

650

B-Lymphocyte

Male

13 YR

White

Yes

FRIEDREICH ATAXIA 1; FRDA

830

760

B-Lymphocyte

Male

14 YR

Yes

FRIEDREICH ATAXIA 1; FRDA

830

7 to 20 (normal range)

B-Lymphocyte

Female

34 YR

White

No

FRIEDREICH ATAXIA 1; FRDA

640

450

B-Lymphocyte

Female

22 YR

White

Yes

FRIEDREICH ATAXIA 1; FRDA

830

7 to 20 (normal range)

B-Lymphocyte

Female

59 YR

White

No

FRIEDREICH ATAXIA 1; FRDA

830

670

B-Lymphocyte

Female

29 YR

White

Yes

FRIEDREICH ATAXIA 1; FRDA

830

350

B-Lymphocyte

Female

53 YR

White

Yes

FRIEDREICH ATAXIA 1; FRDA

530

530

B-Lymphocyte

Male

30 YR

White

Yes

FRIEDREICH ATAXIA 1; FRDA

670

640

B-Lymphocyte

Female

21 YR

White

Yes

FRIEDREICH ATAXIA 1; FRDA

830

280

B-Lymphocyte

Female

42 YR

White

Yes

FRIEDREICH ATAXIA 1; FRDA

800

800

B-Lymphocyte

Female

41 YR

White

Yes

FRIEDREICH ATAXIA 1; FRDA

580

580

B-Lymphocyte

Male

39 YR

White

Yes

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