GM09154
Fibroblast from Lung, Lung
Description:
NEUROAXONAL DYSTROPHY, INFANTILE
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
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Biopsy Source
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Lung
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Cell Type
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Fibroblast
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Tissue Type
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Lung
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Lung, Lung
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Race
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White
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Ethnicity
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HISPANIC
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Family Member
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1
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Relation to Proband
|
proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX[23].arr[hg19] (2p14p13.3(64,720,794-70,196,318), 11p14.3p13(24,488,837-
32,053,419), 18q12.1q21.31(29,543,336-54,047,608), 22q11.22q13.31(22,718,634-44,689,237)) hmz
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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 |
| |
| Remarks |
Hispanic; lung fibro culture; mental retardation; cerebral palsy; spastic quadriplegia since age 1.5 following a febrile episode; brother has progressive motor def; brain showed diffuse swelling & softening & abnormal basal ganglia |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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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