GM20545
LCL from B-Lymphocyte
Description:
DUPLICATED CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities dbGaP |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Ethnicity
|
Not Hispanic/Latino
|
Country of Origin
|
USA
|
Family Member
|
1
|
Family History
|
N
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis before cell line submission to CCR
|
ISCN
|
46,XY,dup(15)(q11.2q13)[48]/46,XY,der(13)t(1;13)(q11;p13),dup(15)(q11q13)[2].ish dup(15)(q11.2q13)(D15Z1+,D15S11++,GABRB3++).arr 15q11.2(19781828-20089383)x1,15q11.2q13.1(20224750-26500067)x3
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
|
Cytogenetics |
Chromosome 15: DUPLICATION Aneuploid Segment (+)15q11>15q13 |
Remarks |
Clinically affected; hypotonia, global developmental delays, hand waving, and echolalia noted in early childhood; autism diagnosed at age 3 years; no clinical seizures but abnormal EEG with focal left hemispheric discharges noted at age 19 years; cognitive impairment; anxiety disorder; ulcerative colitis; de novo interstitial duplication of 15q11q13 of maternal origin (detected initially by FISH: PMID 9741464); maternal grandmother is GM20560; parents not in repository. |
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 |
|
Wang NJ, Liu D, Parokonny AS, Schanen NC, High-Resolution Molecular Characterization of 15q11-q13 Rearrangements by Array Comparative Genomic Hybridization (Array CGH) with Detection of Gene Dosage. Am J Hum Genet75:267-281 2004 |
PubMed ID: 15197683 |
|
Repetto GM, White LM, Bader PJ, Johnson D, Knoll JH, Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization American journal of medical genetics79:82-9 1998 |
PubMed ID: 9741464 |
Split Ratio |
1:2 |
Temperature |
37 C |
Percent CO2 |
5% |
Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not Inactivated |
Substrate |
None specified |
Subcultivation Method |
dilution - add fresh medium |
Supplement |
- |
|
|