GM10989
LCL from B-Lymphocyte
Description:
GILLES DE LA TOURETTE SYNDROME; GTS
CHROMOSOME DELETION
COPY NUMBER VARIATION (CNV) REFERENCE PANEL
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Chromosome Abnormalities dbGaP |
Class |
Disorders of the Nervous System |
Alternate IDs |
GM18051 [GILLES DE LA TOURETTE SYNDROME; GTS] |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Ethnicity
|
LATIN AMERICAN
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
ISCN
|
46,XY,del(9)(p23).ish del(9)(p23)(9ptel30-,D9Z+,wcp9+).arr 9p24.3p23(36587-11986831)x1
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
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 |
|
CNVPANEL |
For more information click here:CNVPANEL01 |
|
Cytogenetics |
Chromosome 9: DELETION Aneuploid Segment (-)9p22>9p13 |
|
Chromosome 9: DELETION Aneuploid Segment (-)9qter>9p23 |
Remarks |
Slow in developing motor skills; questionable seizures at age 7; special education; simple motor tics and simple and complex phonic tics; 46,XY,del(9)(qter> p2304:) or (pter>p22::p13>qter) |
Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021 |
PubMed ID: 35039224 |
|
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 |
Split Ratio |
1:5 |
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 |
- |
|
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