GM23831
LCL from B-Lymphocyte
Description:
CHROMOSOME 8P DELETION SYNDROME
WOLFF-PARKINSON-WHITE SYNDROME
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities Heritable Diseases |
Biopsy Source
|
Peripheral vein
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Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
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Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Ethnicity
|
Not Hispanic/Latino
|
Ethnicity
|
GERMAN/ENGLISH/IRISH/SCOTTISH
|
Family History
|
N
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
ISCN
|
46,XX,del(8)(p23).arr 8p23.3p23.1(46385-7029978)x1,8p23.1(7809878-7978175)x1,8p23.1(8807287-12198242)x1,15q11.1q11.2(20446125-22681064)x3
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Clinically affected; symptom onset at as infant; diagnosis at 4 years of age; born with ASD, 2 VSDs, small aortic valve and initial root, pulmonic stenosis, Wolfe-Parkinson White syndrome, muscular band across left ventricle and tribiculation of left ventricle lining; hypoplastic left ventricle; small atrial left to right shunt; mild pulmonic stenosis; head circumference 5th percentile at age 1, 2nd percentile at 14 months; difficulty with auditory localization; hyperactivity/ADHD; motoric incoordination; language disorder; developmental delay; atrial tachycardia; mild mitral regurgitation; works at a shelter part time, able to perform activities of daily living with assistance, reads at 3rd-4th grade level ;normal brain MRI at age 4; GTG karyotype: 46, XX, 8p-;received occupational , sensory integration, speech/language therapy, and vision therapy (prisms) while in school; chiropractic therapy for pelvic mobility; medications include: concerta, vasotec, allegra, prilosec, orthoevra; surgeries include: atrial septal defect repair and repair of bilaterally cleft mitral valve. |
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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