Description:
ICHTHYOSIS, X-LINKED, WITHOUT STEROID SULFATASE DEFICIENCY
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
X Chromosome Markers |
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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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Ethnicity
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SARDINIAN
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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 |
4 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Remarks |
Sardinian; G6PD normal; Xg(a) positive; normal sterol sulfatase; same patient as GM16784 Lymphoid |
| Robledo R, Melis P, Schillinger E, Casciano I, Balazs I, Rinaldi A, Siniscalco M, Filippi G, X-linked ichthyosis without STS deficiency: clinical, genetical, and molecular studies. Am J Med Genet59(2):143-8 1995 |
| PubMed ID: 8588575 |
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| Chang PL, Mueller OT, Lafrenie RM, Varey PA, Rosa NE, Davidson RG, Henry WM, Shows TB, The human arylsulfatase-C isoenzymes: two distinct genes that escape from X inactivation. Am J Hum Genet46:729-37 1990 |
| PubMed ID: 1690506 |
| Passage Frozen |
4 |
| Split Ratio |
1:3 |
| 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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