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 |
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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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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,XY,der(14)t(2;14)(p23;q32)mat.arr 2p25.3p23.2(2771-28957299)x3,5q14.1(78365749-78749999)x3,14q32.33(105854076-106356482)x1,6q27(170718977-170824447)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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| Passage Frozen |
2 |
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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 86% 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 (-)14q32>14qter |
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Chromosome 2: DERIVATIVE CHROMOSOME Aneuploid Segment (+)2pter>2p23 |
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Chromosome 2: DERIVATIVE CHROMOSOME Trisomic Segment 2pter>2p23 |
| Remarks |
Mental retardation and congenital malformations |
| 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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| Taylor Clelland CL, Levy B, McKie JM, Duncan AM, Hirschhorn K, Bancroft C, Cloning and characterization of human PREB; a gene that maps to a genomic region
associated with trisomy 2p syndrome. Mamm Genome11(8):675-81 2000 |
| PubMed ID: 10920239 |
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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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| Shiloh Y, Shipley J, Brodeur GM, Bruns G, Korf B, Donlon T, Schreck RR, Seeger R, Sakai K, Latt SA, Differential amplification, assembly, and relocation of multiple DNA sequences in human neuroblastomas and neuroblastoma cell lines. Proc Natl Acad Sci U S A82:3761-5 1985 |
| PubMed ID: 3858848 |
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| Sekhon GS, Taysi K, Rath R, Partial trisomy for the short arm of chromosome 2 due to familial balance translocation. Hum Genet44:99-103 1978 |
| PubMed ID: 711241 |
| Passage Frozen |
2 |
| Split Ratio |
1:5 |
| 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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