GM00083
Fibroblast from Gonad, Gonad
Description:
46,XY SEX REVERSAL 1; SRXY1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Gonadal Dysgenesis |
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Biopsy Source
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Gonad
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Cell Type
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Fibroblast
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Tissue Type
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Gonad
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Gonad, Gonad
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Remarks |
46,XY; left gonadal tissue, ? H-Y antigen; same patient as GM00048 |
| Parivesh A, Délot E, Reyes A, Ryan J, Bhattacharya S, Harley V, Vilain E, Reprograming skin fibroblasts into Sertoli cells: a patient-specific tool to understand effects of genetic variants on gonadal development Biology of sex differences15:24 2023 |
| PubMed ID: 38520033 |
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| Feng Y, Pathria G, Heynen-Genel S, Jackson MR, James B, Yin J, Scott DA, Ronai ZA, Identification and Characterization of IMD-0354 as a Glutamine Carrier Protein Inhibitor in Melanoma Molecular cancer therapeutics15:24 2021 |
| PubMed ID: 33632871 |
| 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 |
- |
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