Description:
HYPOMELANOSIS OF ITO; HMI
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
Heritable Diseases |
| Class |
Syndromes with Increased Chromosome Breakage |
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Cell Type
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Fibroblast
|
|
Transformant
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Untransformed
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|
Race
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White
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|
Ethnicity
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ECUADORIAN
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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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|
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 |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Swirls of reticulated pigmentation on trunk, face, & extremities; developmental delay; tumors of orbit, maxilla, scalp, & knee; see GM11708 Lymphoid |
| Passage Frozen |
3 |
| Split Ratio |
1:5 |
| 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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