Description:
LEOPARD SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Ophthalmologic Disorders |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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|
Race
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White
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|
Family Member
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1
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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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|
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Clinically affected; pulmonic stenosis surgically repaired at age 4 years; unilateral herniorraphy at ages 6 and 7 years; severe scoliosis; scoliosis repair at age 15 years with placement of Harrington rod; surgical repair of defective mitral valve at age 23 years; first seizure at age 23 years; unilateral sensorineural deafness; strabismus; recurrent mitral and pulmonic insufficiency diagnosed via echocardiogram; normocephalic with long face; ears measure 6 cm (50th percentile) and are low-set and posteriorly rotated; high, narrow palate; malar hypoplasia; pectus carinatum; numerous 1-2 mm lentigines on face and trunk; 2 cm cafe-au-lait spot overlying left shoulder; axillary freckles; armspan 145 cm; lower segment 78 cm; palm and hand measure 10.5 cm and 18 cm, respectively; hyperextensibility of IP joint; decreased extension of elbows and decreased external rotation of hips; at age 34 years height approximately 54 inches, weight = 39 kg (50th percentile for 12 years, head circumference 56 cm (50th percentile); see GM14728 Lymphoblast |
| Passage Frozen |
2 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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