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