NA00981
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
50 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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Black/African American
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Family Member
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1
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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,inv(9)(p13q13),der(14)t(14;20)(p11.2;p11.1)mat.arr 20p13p11.1(9292-26222822)x3
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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 |
3 |
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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: DERIVATIVE CHROMOSOME Aneuploid Segment (-)14pter>14p11 |
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Chromosome 20: DERIVATIVE CHROMOSOME Aneuploid Segment (+)20pter>20p11 |
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Chromosome 20: DERIVATIVE CHROMOSOME Trisomic Segment 20pter>20p11 |
| Remarks |
Retardation and multiple anomalies |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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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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| Emanuel BS, Zackai E, Mellman WJ, Aronson MM, Greene AE, Coriell LL, A (14;20) translocation, unbalanced, from a subject with severe congenital anomalies. Respository identification No. GM-981. Cytogenet Cell Genet21:173 1978 |
| PubMed ID: 657847 |
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