GM20087
LCL from B-Lymphocyte
Description:
ENCEPHALOPATHY OF CHILDHOOD (LENNOX-GASTAUT SYNDROME)
DUPLICATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| Class |
Disorders of the Nervous System |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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Black/African American
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Ethnicity
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AFRICAN-AMERICAN
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XX,dup(18)(q12.3q22).ish dup(18)(q12.3q22)(wcp18+).arr 4q31.21q31.22(144975019-145163047)x1,18q12.3q22.1(35775026-61034249)x3
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Remarks |
Clinically affected; birth weight 6 pounds 1/4 ounce at term; feeding problems during infancy; mental retardation; seizure disorder developed at age 7 years; stopped taking oral feeds at age 14 years when malrotation was identified; severely delayed developmental milestones: wheelchair bound, nonverbal, can not feed self, totally dependent for toileting needs; excessive drooling; normal pinna; broad, flat forehead; flat malar processes; flexion contractions of the distal interphalangeal joints on the fourth and fifth digits of the left hand and an absent flexion crease of the left distal interphalangeal joint on the fifth finger; flexor tone; two to three beats of clonus noted in lower extremities; tight heel cords bilaterally; flexion contractures of knees and elbows bilaterally; widened reflex zone at knees and hyperactive patellar reflex; exotropia; hyperpigmented macule on chest with irregular borders. |
| 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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