Table 1

Cell strains

Cell strain

Subtype, origin

External genitalia/ phenotype

Age at biopsy (years; months)

Androgen receptor


N-33

GSF, foreskin

Normal fertile male

51;11

Normal (Kd 0.08 nM, Bmax 26.40 fmol/mg protein)

N-40

GSF, foreskin

Normal male

7;11

Normal (Kd 0.09 nM, Bmax 32.44 fmol/mg protein)

N-52

GSF, foreskin

Normal male

0;3

Normal (Kd 0.06 nM, Bmax 35.36 fmol/mg protein)

N-56

GSF, foreskin

Normal fertile male

42;10

Normal (Kd 0.07 nM, Bmax 13.35 fmol/mg protein)

N-57

GSF, foreskin

Normal male

5;11

Normal (Kd 0.05 nM, Bmax 24.13 fmol/mg protein)

N-58

GSF, foreskin

Normal male

5;11

Normal (Kd 0.10 nM, Bmax 30.61 fmol/mg protein)

N-59

GSF, foreskin

Normal male

0;8

Normal (Kd 0.07 nM, Bmax 40.01 fmol/mg protein)

N-60

GSF, foreskin

Normal male

5;4

Normal (Kd 0.05 nM, Bmax 20.08 fmol/mg protein)

N-62

GSF, foreskin

Normal male

2;0

Normal (Kd 0.08 nM, Bmax 86.16 fmol/mg protein)

N-AKPZF

PRF, peripheral zone

Normal male

Adult

Not investigated

N-ST4

ASF, abdominal skin

Normal male

46;0

Not investigated

N-LS12

FSF, forearm skin

Normal male

36;0

Not investigated

ARD1097

GSF, labia majora

Normal female

1;3

CAIS, Pro390Ser + Arg855Gly, negative androgen binding

ARD411

GSF, labia majora

Normal female

0;4

CAIS, Arg855Cys, negative androgen binding

ARD682

GSF, labia majora

Normal female

14;10

CAIS, no mutation in AR-gene, negative androgen binding, no AR-protein in western immunoblot

ARD402

GSF, labia majora

Normal female

1;0

CAIS, no mutation in AR-gene, negative androgen binding, very low AR-mRNA transcription, no AR-protein in western immunoblot

ARD377

GSF, labia majora

Predominantly female

1;2

AIS4, Ile841Ser, (Kd 0.55 nM; Bmax 17.01 fmol/mg protein)

ARD842

GOF, gonad

Normal female

38;0

CAIS, 26 bp deletion exon 1 (141-150), frameshift, premature stop codon, negative androgen binding

ARD1004

GOF, gonad

Normal female

17;4

CAIS, Val866Met, negative androgen binding

ARD291

GOF, gonad

Normal female

18;4

CAIS, Phe794Ser, negative amdrogen binding

ARD531

GOF, gonad

Normal female

35,2

CAIS, Ala765Thr, negative androgen binding

ARD557

GOF, gonad

Normal female

6;6

CAIS, donor splice site exon 2/intron 2, negative androgen binding

ARD465

GSF, labia majora

Normal female

5;5

CAIS, Glu287stop, low expression of wild-type AR (Kd 0.11 nM; Bmax 3.6 fmol/mg protein), post-zygotic mutation (somatic mosaicism)

ARD364

GSF, labia majora

Predominantly female

23;0

AIS4, Leu 172 stop, high expression of wild-type AR (Kd 0.06 nM, Bmax 22.6 fmol/mg protein), post-zygotic mutation (somatic mosaicism) (6)


ARD, strain-ID; ASF, abdominal skin fibroblast; FSF, forearm skin fibroblast; GOF, gonadal fibroblast; GSF, genital skin fibroblast; PRF, prostate fibroblast. Normal ranges for androgen (methyltrienolone) binding: Bmax (binding capacity): 13.35-115.98 fmol/mg protein; Kd (dissociation constant): 0.03-0.13 nM.

Holterhus et al. Genome Biology 2003 4:R37   doi:10.1186/gb-2003-4-6-r37

Open Data