Description:
XXXY AND XXXXY 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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Country of Origin
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USA
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Family Member
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4
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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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49,XXXXY
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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 |
11 |
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| 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 |
| |
| Cytogenetics |
Chromosome X: ANEUPLOID Aneuploid Segment (+)Xpter>Xqter |
| Remarks |
Normal RBC G6PD level; Xg(a) antigen positive; severe retardation; hypogonadism; mother is GM00321 Fibroblast |
| Alowaysi M, Fiacco E, Astro V, Adamo A, Establishment of iPSC lines from a high-grade Klinefelter Syndrome patient (49-XXXXY) and two genetically matched healthy relatives (KAUSTi003-A, KAUSTi004-A, KAUSTi004-B, KAUSTi005-A, KAUSTi005-B, KAUSTi005-C) Stem cell research49:102008 2020 |
| PubMed ID: 32987351 |
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| Treff NR, Zimmerman R, Bechor E, Hsu J, Rana B, Jensen J, Li J, Samoilenko A, Mowrey W, Van Alstine J, Leondires M, Miller K, Paganetti E, Lello L, Avery S, Hsu S, Melchior Tellier LCA, Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform European journal of medical genetics62:103647 2019 |
| PubMed ID: 31026593 |
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| Treff NR, Su J, Tao X, Northrop LE, Scott RT, Single-cell whole-genome amplification technique impacts the accuracy of SNP microarray-based genotyping and copy number analyses Molecular human reproduction17:335-43 2010 |
| PubMed ID: 21177337 |
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| Bonifas JM, Morley BJ, Oakey RE, Kan YW, Epstein EH Jr, Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis. Proc Natl Acad Sci U S A84:9248-51 1987 |
| PubMed ID: 3480541 |
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| Wolf SF, Mareni CE, Migeon BR, Isolation and characterization of cloned DNA sequences that hybridize to the human X chromosome. Cell21:95-102 1980 |
| PubMed ID: 7190879 |
| Passage Frozen |
11 |
| 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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