NA00501
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
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
46,XY,der(2)t(2;4)(p25.3;q23)pat.arr 1q31.3(195028430-195168376)x1,2p25.3(2771-691178)x1,4q23q35.2(99406896-191254119)x3
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 2: DERIVATIVE CHROMOSOME Aneuploid Segment (-)2pter>2p25 |
|
Chromosome 4: DERIVATIVE CHROMOSOME Aneuploid Segment (+)4q21>4qter |
|
Chromosome 4: DERIVATIVE CHROMOSOME Trisomic Segment 4q21>4qter |
| Remarks |
Growth and mental retardation |
| 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 |
| |
| 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 |
| |
| Su TS, Nussbaum RL, Airhart S, Ledbetter DH, Mohandas T, O'Brien WE, Beaudet AL, Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis. Am J Hum Genet36:954-64 1984 |
| PubMed ID: 6093508 |
| |
| 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 |
| |
| Meager A, Graves HE, Shuttleworth J, Zucker N, Interferon production: variation in yields from human cell lines. Infect Immun25:658-63 1979 |
| PubMed ID: 489124 |
| |
| Biederman B, Bowen P, Partial trisomy 4q due to familial 2/4 translocation. Hum Genet33:147-53 1976 |
| PubMed ID: 939566 |
| |
| Biederman B, Bowen P, Aronson MM, Greene AE, Coriell LL, A (2;4) translocation, balanced, 46 chromosomes. Repository identification No. GM-1064. Cytogenet Cell Genet17:300-1 1976 |
| PubMed ID: 1017323 |
| |
| Biederman B, Bowen P, Aronson MM, Greene AE, Coriell LL, A (2;4) translocation, unbalanced, 46 chromosomes. Repository identification No. GM-501. Cytogenet Cell Genet17:298-9 1976 |
| PubMed ID: 1017322 |
|
|