NA08210
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 |
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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45,XX,der(4)t(4;21)(21qter->21q11.2::4p16.3->4qter),-21.ish der(4)t(4;21)(VIJyRM2029+,LSI21q+,4ptel02-,LSI WHS-,CEP4+)
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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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| PDL at Freeze |
5.22 |
| Passage Frozen |
13 |
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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 |
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| Remarks |
Growth, motor, & mental retardation; facial asymmetry; prominent forehead; high arched palate; elevated nasal bridge; micrognathia; ulnar deviation of 2nd & 3rd fingers bilaterally; normal fibroblast SOD-1 activity |
| 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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| Roberson ED, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, Leonard J, Hamosh A, Pevsner J, Genomic analysis of partial 21q monosomies with variable phenotypes European journal of human genetics : EJHG19:235-8 2010 |
| PubMed ID: 20823914 |
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| Carlock L, Wisniewski D, Lorincz M, Pandrangi A, Vo T, An estimate of the number of genes in the Huntington disease gene region and the identification of 13 transcripts in the 4p16.3 segment. Genomics13:1108-18 1992 |
| PubMed ID: 1387107 |
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| Gardiner K, Watkins P, Munke M, Drabkin H, Jones C, Patterson D, Partial physical map of human chromosome 21. Somat Cell Mol Genet14:623-37 1988 |
| PubMed ID: 3194801 |
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| Carpenter NJ, Mayes JS, Say B, Wilson DP, Partial deletion 21: case report with biochemical studies and review. J Med Genet24:706-9 1987 |
| PubMed ID: 3430548 |
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| Carpenter, Unbalanced translocation t(4;21)(p16.3;q 21.1) investigated by SOD-1 assay and DNA probes to chromosome 21 . Am J Hum Genet37:A48 (1985):706-9 1985 |
| PubMed ID: 3430548 |
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