NA01220
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
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
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| 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 |
|
Chromosome 7: DERIVATIVE CHROMOSOME Aneuploid Segment (+)7q34>7qter |
|
Chromosome 7: DERIVATIVE CHROMOSOME Aneuploid Segment (+)7q34->7qter |
|
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 |
| |
| 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 |
| |
| 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 |
| |
| 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 |
| |
| 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 |
|