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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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,der(4)t(4;7)(p16;q34)mat.ish der(4)t(4;7)(wcp7+,G31340+,4ptel04+,LSI WHS+,CEP4+).arr 7q34q36.3(139630230-158812469)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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| PDL at Freeze |
8.75 |
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 4: DERIVATIVE CHROMOSOME Aneuploid Segment (-)4pter>4p16 |
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Chromosome 7: DERIVATIVE CHROMOSOME Aneuploid Segment (+)7q34>7qter |
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Chromosome 7: DERIVATIVE CHROMOSOME Aneuploid Segment (+)7q34->7qter |
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Chromosome 7: DERIVATIVE CHROMOSOME Trisomic Segment 7q34>7qter |
| Remarks |
Hypotonia, clubbed feet, and cardiac abnormality with cyanotic spells |
| 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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| Tommerup N, Aagaard L, Lund CL, Boel E, Baxendale S, Bates GP, Lehrach H, Vissing H, A zinc-finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndrome. Hum Mol Genet2:1571-5 1993 |
| PubMed ID: 8268908 |
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| Schmutz SM, Simpson NE, Suggested assignment of peptidase S (PEPS) to 4p11-4q12 by exclusion using gene dosage, accounting for variability in fibroblasts. Hum Genet64:134-8 1983 |
| PubMed ID: 6350155 |
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| Schmutz, Suggested assignment of peptidase S(PEPS ) to 4p12>q12 by exclusion using gene dosage. Cytogenet Cell Genet32:315 (1982):134-8 1982 |
| PubMed ID: 6350155 |
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| Jackson LG, Bozarth B, Aronson MM, Greene AE, Coriell LL., A (4;7) translocation, 46 chromosomes. Repository identification No. GM- 1220. Cytogenet Cell Genet19:50 1977 |
| PubMed ID: 891262 |
| Cumulative PDL at Freeze |
15.8 |
| Passage Frozen |
6 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
| Supplement |
- |
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