GM18379
LCL from B-Lymphocyte
Description:
VARADI-PAPP SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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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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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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 Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Clinically affected; birth weight 3.1 kg at term; birth length 51 cm; birth head circumference 35 cm; polydactyly of all four extremities; midline cleft lip and palate; seizure disorder (abnormal EEG in infancy); hyperbilirubinemia; hamartoma of tongue; sagittal suture synostosis; Duane syndrome; normal echocardiogram; delayed developmental milestones: walked independently at 3 years, toilet trained at 9 years, sentences at 5 years; full scale IQ is 55; decreased hearing in left ear; difficulty chewing due to supernumerary teeth; dolicocephaly; long, narrow face; normal pinna; prominent squared nasal bridge root and nasal tip; synophrys; V-shaped collapsed upper dental arch; enamel defect and crowding of lower jaw; asymmetric palate with deviation of uvula to the right; open-mouth stance; disconjugate gaze and paralysis of lateral gaze; bilateral epicanthal folds; saddle deformity posterior to craniotomy and fibrotic anterior fontanel; left upper extremity: broad thumb with hypoplasia of distal phalanx, 4 digits, brachydactyly of 5th digit, status post removal of a digit from between the digits 3 and 4, extra transverse palmar crease and absence of flexion crease on 5th digit; upper right extremity has same findings except there is no supernumerary palmar crease; short, stubby feet; status post removal of pre-axial toes. |
| 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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