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 |