GM07890
LCL from B-Lymphocyte
Description:
CHROMOSOME DELETION
ESTERASE D; ESD S-FORMYLGLUTATHIONE HYDROLASE, INCLUDED; FGH, INCLUDED
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases Chromosome Abnormalities dbGaP |
Class |
Other Disorders of Known Biochemistry |
Biopsy Source
|
Peripheral vein
|
Cell Type
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B-Lymphocyte
|
Tissue Type
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Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Relation to Proband
|
proband
|
Confirmation
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Clinical summary/Case history
|
ISCN
|
46,XX,del(13)(q13q21).arr 13q13.1q21.31(32302481-63967037)x1
|
Species
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Homo sapiens
|
Common Name
|
Human
|
Remarks
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|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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Cytogenetics |
Chromosome 13: DELETION Aneuploid Segment (-)13q12>13q21 |
|
Chromosome 13: DELETION Aneuploid Segment (-)13q12>13q21 |
Remarks |
Developmental delay; growth retardation; mild facial dysmorphism; normal eye exam; 50% of normal Esterase D activity in blood; 46,XX,del(13)(pter>q12.3::q21.2> qter) |
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 |
|
Ramanathan Y, Reza SM, Young TM, Mathews MB, Pe'ery T, Human and rodent transcription elongation factor P-TEFb: interactions with human immunodeficiency virus type 1 tat and carboxy-terminal domain substrate. J Virol73:5448-58 1999 |
PubMed ID: 10364292 |
|
Barr FG, Sellinger B, Emanuel BS, Localization of the rhabdomyosarcoma t(2;13) breakpoint on a physical map of chromosome 13. Genomics11:941-7 1991 |
PubMed ID: 1783402 |
|
Warburton D, Gersen S, Yu MT, Jackson C, Handelin B, Housman D, Monochromosomal rodent-human hybrids from microcell fusion of human lymphoblastoid cells containing an inserted dominant selectable marker. Genomics6:358-66 1990 |
PubMed ID: 2307476 |
Split Ratio |
1:2 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
AMBIENT |
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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