NA15917
DNA from Fibroblast
Description:
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
Engineered Cell Cultures |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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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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44,XY,t(1;13)(1qter>1p32::13q12>13qter;13pter>13q12::1p32>1pter),del(10)(:p11>qter),-4.der(11)t(1;11)(11qter>11p15::1q12>1qter),der(12;14)(12pter>12p10::14q10>14qter),der(12;15)(12qter>12q10::15q10>15qter),-12,der(13)t(4;13)(4pter>4p12::13q12>13pter).ish der(1)t(1;13)(wcp4-,wcp13+),der(13)t(4;13)(wcp4+,D13Z1+,D13S327-),rev ish dim(1)(p32>pter),enh(1)(q12>qter),dim(4)(p12>qter),dim(10)(p11>pter),dim(13)(q12>q12)
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
A monosomic segregant of line GM15916; GM15917 is monosomic for 1pter>1p32, 4p12>4qter, 10pter>10p11 and 13q12>13q12 |
| 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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