Table 1 Samples used for RNA-sequencing

From: Transcriptome analysis of the adult human Klinefelter testis and cellularity-matched controls reveals disturbed differentiation of Sertoli- and Leydig cells

ID

Group

Age

Karyotype (blood)

Fixative

Block age

Library size

Included in final analysis/ reason for exclusion

aKS1

Adult KS

21y, 7m

47,XXY

GR-fix

1 y

7,413,356

Yes

aKS2

Adult KS

27y, 7m

47,XXY

Bouin

14 y

1,693,175

Yes

aKS3

Adult KS

28 y, 7 m

47,XXY

GR-fix

4 y

2,199,570

Yes

aKS4a

Adult KS

30 y, 7 m

 

Stieve

42 y

812,877

No XIST expression

aKS5

Adult KS

40y, 2m

47,XXY

Stieve

16 y

177,280

Low library size and MDS plot

aKS6

Adult KS

21y, 3m

48,XXYY, 47,XXY

Stieve

40 y

132,405

Low library size and MDS plot

aKS7a

Adult KS

27 y, 11 m

 

Stieve

48 y

541,108

MDS plot

aKS8a

Adult KS

28 y, 6 m

 

Stieve

48 y

123,653

No XIST expression

aKS9

Adult KS, GCs

21y, 7m

47,XXY

GR-fix

1 y

8,233,082

Same patient as aKS1

aKS10

Adult KS, GCs

30y, 0m

47,XXY

Stieve

14 y

188,313

Low library size and MDS plot

aCMC1

Adult CMC

32 y, 0 m

46,XY

GR-fix

6 y

4,480,564

Yes

aCMC2

Adult CMC

32y, 7m

Two SHOX copies

GR-fix

4 y

7,868,360

Yes

aCMC3

Adult CMC

33 y, 8 m

46,XY

GR-fix

7 y

2,044,132

Yes

aCMC4

Adult CMC

39 y, 8 m

46,XY

GR-fix

5 y

3,113,958

Balance with number of KS samples

aCMC5

Adult CMC

42 y, 2 m

46,XY

GR-fix

7 y

2,443,579

Balance with number of KS samples

aSCO1

Adult SCO

29 y, 6 m

46,XY

GR-fix

3 y

3,064,063

 

aSCO2

Adult SCO

31 y, 7 m

46,XY

GR-fix

7 y

2,317,076

 

aSCO3

Adult SCO

33 y, 3 m

46,XY

GR-fix

6 y

7,157,424

 

aSCO4

Adult SCO

35 y, 4 m

46,XY

GR-fix

6 y

3,897,228

 

aSCO5

Adult SCO

43 y, 5 m

46,XY

GR-fix

5 y

634,570

Low library size and MDS plot

aNorm1b

Adult NT

30 y, 2 m

46,XYd

GR-fix

4 y

4,635,540

Yes

aNorm2c

Adult NT

31 y, 3 m

46,XYe

GR-fix

6 y

3,100,541

Yes

aNorm3c

Adult NT

35 y, 9 m

46,XYe

GR-fix

6 y

1,213,352

Yes

aNorm4b

Adult NT

39 y, 9 m

No karyotyped

GR-fix

5 y

373,341

Yes

pKS1a,d

Pre-pubertal KS

9 y, 6 m

 

Stieve

39 y

442,161

Yes

pKS2a,d

Pre-pubertal KS

9 y, 6 m

 

Stieve

35 y

481,952

Yes

pKS3a,d

Pre-pubertal KS

11 y, 0 m

 

Cleland

32 y

404,698

Yes

pKS4a,d

Pre-pubertal KS

14 y, 1 m

 

Stieve

37 y

231,918

Yes

pKS5a,d

Pre-pubertal KS

14 y, 9 m

 

Stieve

39 y

1,120,193

No XIST expression

pNorm1e

Pre-pubertal NT

7 y, 5 m

 

Stieve

21 y

671,897

Yes

pNorm2f

Pre-pubertal NT

7 y, 9 m

 

Cleland

30 y

1,026,282

Yes

pNorm3f

Pre-pubertal NT

10 y, 2 m

 

Cleland

30 y

392,993

Yes

pNorm4f

Pre-pubertal NT

10 y, 10 m

 

Stieve

35 y

268,552

Yes

  1. KS Klinefelter syndrome, GCs germ cells, SCO Sertoli cell-only, NT normal testis (biopsy with complete spermatogenesis), GR-fix modified Stieve’s fixative, y years, m months
  2. aKnown KS patient, no karyotype available
  3. bTestis cancer patient
  4. cMan from infertile couple
  5. dBiopsy taken due to suspicion of urological problems
  6. eAcute lymphocytic leukemia patient
  7. fAutopsy
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