Description:
XX MALE SYNDROME
APPARENTLY HEALTHY INDIVIDUAL
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Gonadal Dysgenesis |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
5
|
|
Relation to Proband
|
cousin-in-law
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XX
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
7 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Remarks |
46,XX in leukocytes and fibroblasts; clinically normal; mother of GM02626 |
| Napierala JS, Rajapakshe K, Clark A, Chen YY, Huang S, Mesaros C, Xu P, Blair IA, Hauser LA, Farmer J, Lynch DR, Edwards DP, Coarfa C, Napierala M, Reverse phase protein array reveals correlation of retinoic acid metabolism with cardiomyopathy in Friedreich's ataxia Molecular & cellular proteomics : MCP:100094 2021 |
| PubMed ID: 33991687 |
| |
| Wang D, Ho ES, Cotticelli MG, Xu P, Napierala JS, Hauser LA, Napierala M, Himes BE, Wilson RB, Lynch DR, Mesaros C, Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich's ataxia Journal of lipid research63:100255 2021 |
| PubMed ID: 35850241 |
| |
| Napierala JS, Li Y, Lu Y, Lin K, Hauser LA, Lynch DR, Napierala M, Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers Disease models & mechanisms10:1353-1369 2017 |
| PubMed ID: 29125828 |
| |
| Page DC, de la Chapelle A, Weissenbach J, Chromosome Y-specific DNA in related human XX males. Nature315:224-6 1985 |
| PubMed ID: 2987697 |
| |
| Page DC, de la Chapelle A, The parental origin of X chromosomes in XX males determined using restriction fragment length polymorphisms. Am J Hum Genet36:565-75 1984 |
| PubMed ID: 6328977 |
| |
| Chapelle AD, Schroder J, Murros J, Tallqvist G, Two XX males in one family and additional observations bearing on the etiology of XX males. Clin Genet11:91-106 1977 |
| PubMed ID: 837567 |
| Passage Frozen |
7 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|