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Table 1 Fibroblast strains

From: Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome

cell strain micro-array data set anatomic origin embryonal anlagen external genitalia AIS-stage age at biopsy years; months selected functional data (androgen binding, AR-genotype, specific remarks)
F-33 1 foreskin genital tubercle normal fertile male 51;11 Kd 0.08 nM, Bmax 26 fmol/mg protein
F-40 1, 2 foreskin genital tubercle normal male 7;11 Kd 0.09 nM, Bmax 32 fmol/mg protein
F-52 1 foreskin genital tubercle normal male 0;3 Kd 0.06 nM, Bmax 35 fmol/mg protein
F-56 1, 2 foreskin genital tubercle normal fertile male 42;10 Kd 0.07 nM, Bmax 13 fmol/mg protein
F-57 1 foreskin genital tubercle normal male 5;11 Kd 0.05 nM, Bmax 24 fmol/mg protein
F-58 1 foreskin genital tubercle normal male 5;11 Kd 0.10 nM, Bmax 31 fmol/mg protein
F-59 1, 2 foreskin genital tubercle normal male 0;8 Kd 0.07 nM, Bmax 40 fmol/mg protein
F-60 1 foreskin genital tubercle normal male 5;4 Kd 0.05 nM, Bmax 20 fmol/mg protein
F-62 1 foreskin genital tubercle normal male 2;0 Kd 0.08 nM, Bmax 86 fmol/mg protein
ARD339 1 foreskin genital tubercle ambiguous (AIS3) 1;4 Glu798Gln
ARD082 1 foreskin genital tubercle ambiguous (AIS3) 10;11 Asp604Tyr
ARD183 1 foreskin genital tubercle ambiguous (AIS3) 5;1 Asp756Ser
ARD515 2 foreskin genital tubercle ambiguous (AIS3) 0;6 homozygous missense mutation Arg227Gln in SRD5A2 gene leading to 5α reductase type II deficiency
S-1 2 scrotum labioscrotal swellings normal male 30;0 no functional data
S-4 2 scrotum labioscrotal swellings normal male 1;3 Kd 0.12 nM, Bmax 44 fmol/mg protein
S-5 2 scrotum labioscrotal swellings normal male 1;7 Kd 0.09 nM, Bmax 28 fmol/mg protein
S-8 2 scrotum labioscrotal swellings normal male 31;0 no functional data
S-9 2 scrotum labioscrotal swellings normal male 34;0 Kd 0.08 nM, Bmax 55 fmol/mg protein
S-11 2 scrotum labioscrotal swellings normal male 32;2 Kd 0.08 nM, Bmax 26 fmol/mg protein
S-12 2 scrotum labioscrotal swellings normal male 9;2 Kd 0.07 nM, Bmax 37.09 fmol/mg protein
ARD527 1, 2, 3 scrotum labioscrotal swellings predominantly male (AIS2) 1;6 Leu712Phe, Kd 0.21 nM; Bmax 38 fmol/mg protein
ARD446 1 scrotum labioscrotal swellings predominantly male (AIS2) 7;8 silent mutation GGG>GGA in codon 795 of the AR-gene Kd 0.07 nM, Bmax 26 fmol/mg protein
ARD407 1, 2 scrotum labioscrotal swellings predominantly male (AIS2) 1:0 polyglycin repeat of the N-terminus reduced to 10 repeats plus Ala645Asp, Kd 0.09 nM; Bmax 36 fmol/mg protein
ARD306 1, 2 scrotum labioscrotal swellings predominantly male (AIS2) 7;8 Arg855His; Kd 0.97 nM, Bmax 20 fmol/mg protein
ARD774 1 scrotum labioscrotal swellings predominantly male (AIS2) 0;11 Ala596Thr; Kd 0.08 nM; Bmax 43 fmol/mg protein
ARD208 1 labia majora/scrotum labioscrotal swellings ambiguous (AIS3) 1;1 Val746Met; Kd 0.16 nM; Bmax 3 fmol/mg protein
ARD534 1 labia majora/scrotum labioscrotal swellings ambiguous (AIS3) 2;4 Arg608Lys
ARD084 1 labia majora/scrotum labioscrotal swellings ambiguous (AIS3) 0;8 no mutation in the whole coding region of the AR gene, reduced AR-mRNA, reduced AR-protein and reduced ligand binding (Kd 0.05 nM; Bmax 6 fmol/mg protein)
ARD001 1 labia majora/scrotum labioscrotal swellings ambiguous (AIS3) 0;9 exonic splice site mutation AGC>AGT in codon 888 leading to aberrant splicing
ARD380 1 labia majora/scrotum labioscrotal swellings ambiguous (AIS3) 13;1 Arg615Pro, post zygotic mutation leading to somatic mosaicism
ARD377 1 labia majora/scrotum labioscrotal swellings predominantly female (AIS4) 1;2 Ile841Ser, (Kd 0.55 nM; Bmax 17 fmol/mg protein),
ARD659 1 labia majora labioscrotal swellings Predominantly female (AIS4) 3;10 Ala870Gly
ARD1097 1, 2 labia majora labioscrotal swellings normal female (CAIS) 1;3 Pro390Ser + Arg855Gly, negative androgen binding
ARD411 1, 2 labia majora labioscrotal swellings normal female (CAIS) 0;4 Arg855Cys, negative androgen binding
ARD1144 3 labia majora labioscrotal swellings normal female (CAIS) 4;3 pathological androgen binding, Kd 1.59 nM, Bmax 14 fmol/mg protein, no mutation detected
GS641-7/ARD291 3 labia majora labioscrotal swellings normal female (CAIS) 18;4 Phe794Ser, negative androgen binding
ARD682 1, 2 labia majora labioscrotal swellings normal female (CAIS) 14;10 Gln59stop, negative androgen binding, no AR-protein in Western immunoblot
ARD402 1, 2 labia majora labioscrotal swellings normal female (CAIS) 1;0 2 base pair deletion in exon 1, frameshift, premature stop codon, negative androgen binding, very low AR-mRNA transcription, no AR-protein in Western immunoblot
ARD075 1, 2 labia majora labioscrotal swellings normal female (CAIS) 12;3 Arg774Cys, post zygotic mutation leading to somatic mosaicism, Kd1 0.03 nM; Bmax1 2 fmol/mg protein (wilde type AR); Kd2 8.5 nM; Bmax2 29 fmol/mg protein (mutant AR)
ARD465 1 labia majora labioscrotal swellings normal female (CAIS) 5;5 Glu287stop, low expression of wild-type AR (Kd 0.11 nM; Bmax 4 fmol/mg protein), post-zygotic mutation (somatic mosaicism likely)
L-1 3 labia minora urethral folds normal female 37;10 normal female (46, XX)
L-2 3 labia minora urethral folds normal female 23;0 female (46 XX), classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency, external genital virilization of Prader 3 corresponding phenotypically to "AIS3"
L-3 3 labia majora labioscrotal swellings normal female 40;4 normal female (46, XX)
ARD709 1 testis gonad ambiguous (AIS3) 6;5 Met775Ile
ARD291 1 testis gonad normal female (CAIS) 18;4 Phe794Ser, negative androgen binding
ARD531 1 testis gonad normal female (CAIS) 35,2 Ala765Thr, negative androgen binding
ARD557 1 testis gonad normal female (CAIS) 6;6 donor splice site exon 2/intron 2, negative androgen binding
ARD842 1 testis gonad normal female (CAIS) 38;0 26 bp deletion exon 1 (141–150), frameshift, premature stop codon, negative androgen binding
ARD1004 1 testis gonad normal female (CAIS) 17;4 Val866Met, negative androgen binding
N-ST4 1 abdominal skin normal male 46;0 no functional data
N-LS12 1 forearm skin normal male 36;0 no functional data
  1. Fibroblast strains; microarray dataset in whichh they have been analysed (1 – 3); ARD or GS, patient strain-ID; F, normal male foreskin fibroblasts; S, normal male scrotal fibroblasts. L-1-3 represent the only samples with a 46, XX karyotype. N-ST4 and N-LS12 are of extragenital origin. ARD515 was derived from a 46, XY male with ambiguous genitalia due to a 5α reductase type II defect rather than AIS. Normal ranges for androgen (methyltrienolone) binding: Bmax (binding capacity): 13–116 fmol/mg protein; Kd (dissociation constant): 0.03–0.13 nM.