Description:
USHER SYNDROME, TYPE IA; USH1A
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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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Ethnicity
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GERMAN
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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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ISCN
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46,XY
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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 |
6 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Remarks |
German; mildly affected; slow progression; brother is similarly affected; see GM03853 Lymphoid; 46,XY |
| Al-Choboq J, Ferlazzo ML, Sonzogni L, Granzotto A, El-Nachef L, Maalouf M, Berthel E, Foray N, Usher Syndrome Belongs to the Genetic Diseases Associated with Radiosensitivity: Influence of the ATM Protein Kinase International journal of molecular sciences23: 2022 |
| PubMed ID: 35163494 |
| Passage Frozen |
6 |
| 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 |
20% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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