GM21894
Fibroblast from Skin, Unspecified
Description:
CAMPOMELIC DYSPLASIA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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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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| PDL at Freeze |
7.44 |
| Passage Frozen |
8 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Remarks |
Clinically affected; XY female; stillborn with marked polyhydramnios; large head with prominent occiput; examination of the brain showed large lateral ventricles and dilated aqueduct and missing olfactory nerves; wide forehead; small mandible; wideset eyes; flat nasal bridge; short down-slanted palpebral fissures; long philtrum; small mouth with cleft soft palate; lowset ears; short webbed neck; short sternum; tracheal rings were thin and C-shaped; hemorrhagic lungs; scapulae were narrow; short thumbs; femurs were slightly bowed; tibiae markedly bowed; bilateral clubbed feet; enlarged clitoris; ovaries showed some primitive tubular cords resembling immature but dysgenetic testicular tissue; rete testis tubes were present; parents may be consanguineous; two of the father's sisters had one infant each that died in the neonatal period, neither with short limbs |
| 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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| Puck SM, Haseltine FP, Francke U, Absence of H-Y antigen in an XY female with campomelic dysplasia Human genetics57:23-7 1981 |
| PubMed ID: 7196381 |
| Passage Frozen |
8 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
10% |
| Percent O2 |
AMBIENT |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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