GM16457
LCL from B-Lymphocyte
Description:
18Q- SYNDROME
CHROMOSOME DELETION
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities dbGaP |
Biopsy Source
|
Peripheral vein
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Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
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 |
|
Remarks |
Line JL404; 18q- Syndrome; decreased growth; midface hypoplasia; increased whorls on fingers; hypotonia present for only a few months after birth; developmental delay; parental line of hybrid GM16458. |
Zhang S, Zhao D, Zhang J, Mao Y, Kong L, Zhang Y, Liang B, Sun X, Xu C, BasePhasing: a highly efficient approach for preimplantation genetic haplotyping in clinical application of balanced translocation carriers BMC medical genomics12:52 2018 |
PubMed ID: 30885195 |
|
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 |
|
Strathdee G, Sutherland R, Jonsson JJ, Sataloff R, Kohonen-Corish M, Grady D, Overhauser J, Molecular characterization of patients with 18q23 deletions. Am J Hum Genet60(4):860-8 1997 |
PubMed ID: 9106532 |
|
Kohonen-Corish M, Strathdee G, Overhauser J, McDonald T, Jammu V, A new deletion of 18q23 with few typical features of the 18q- syndrome. J Med Genet33(3):240-3 1996 |
PubMed ID: 8728701 |
Split Ratio |
1:4 |
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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