Description:
TURNER SYNDROME
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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45,X[18].arr(X)x1
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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 |
4.51 |
| Passage Frozen |
4 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Byun S, Yoon SH, Hong YJ, Jang HS, Seo BJ, Choi GT, La H, Lee JW, Hong K, Do JT, Expression Patterns of Escape Genes in Turner Syndrome Fibroblasts and Induced Pluripotent Stem Cells International journal of molecular sciences26: 2025 |
| PubMed ID: 39940742 |
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| Chen WJ, Chao YY, Huang WK, Chang WF, Tzeng CR, Chuang CH, Lai PL, Schuyler SC, Li LY, Lu J, Identification of apelin/APJ signaling dysregulation in a human iPSC-derived granulosa cell model of Turner syndrome Cell death discovery10:468 2024 |
| PubMed ID: 39543104 |
| |
| Warshawsky I, Chernova OB, Hübner CA, Stindl R, Henneke M, Gal A, Natowicz MR, Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease Clinical chemistry52:1267-75 2006 |
| PubMed ID: 16644873 |
| |
| Deutsch S, Choudhury U, Merla G, Howald C, Sylvan A, Antonarakis SE, Detection of aneuploidies by paralogous sequence quantification Journal of medical genetics41:908-15 2004 |
| PubMed ID: 15591276 |
| |
| Zacksenhaus E, Sheinin R, Molecular cloning, primary structure and expression of the human X linked A1S9 gene cDNA which complements the ts A1S9 mouse L cell defect in DNA replication. EMBO J9:2923-9 1990 |
| PubMed ID: 2390975 |
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| Zacksenhaus E, Sheinin R, Molecular cloning of human A1S9 locus: an X-linked gene essential for progression through S phase of the cell cycle. Somat Cell Mol Genet15:545-53 1989 |
| PubMed ID: 2595454 |
| Passage Frozen |
4 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
| Supplement |
- |
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