NA03417
DNA from Fibroblast
Description:
TRISOMY 21
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
10 µg |
| 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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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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46,XX,der(14;21)(14qter>14q10::21q10>21qter),+21[34]/45,XX,der(14;21)(14qter>14q10::21q10>21qter)[16]
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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 |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| CARDIAC ALPHA- & BETA-MYOSIN HEAVY CHAINS |
Matsuoka et al (Am J Med Genet 32:279-284,1989) performed gene dosage analysis on the DNA from this cell culture using human cardiac alphaand beta-myosin heavy chain probes (MYH6 & MYH7). Densitometric scanning revealed a signal intensity of 88% for this culture when compared with control DNA. The results indicated that human cardiac myosin heavy chain genes segregated with the 14cen>q13 region of the long arm of chromosome 14. |
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| Cytogenetics |
Chromosome 14: TRANSLOCATION Breakpoint 14cen t(14;21)14cen |
| Remarks |
Mosaic; 32% of cells are balanced 45,XX, t(14;21); clinical features of Down syndrome |
| Lopes M, Louzada S, Ferreira D, Veríssimo G, Eleutério D, Gama-Carvalho M, Chaves R, Human Satellite 1A analysis provides evidence of pericentromeric transcription BMC biology21:28 2022 |
| PubMed ID: 36755311 |
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| Page SL, Shin JC, Han JY, Choo KH, Shaffer LG, Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation. Hum Mol Genet5(9):1279-88 1996 |
| PubMed ID: 8872467 |
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| Matsuoka R, Yoshida MC, Kanda N, Kimura M, Ozasa H, Takao A, Human cardiac myosin heavy chain gene mapped within chromosome region 14q11.2----q13. Am J Med Genet32:279-84 1989 |
| PubMed ID: 2494889 |
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