Description:
BARDET-BIEDL SYNDROME, BBS
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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
|
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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|
| PDL at Freeze |
8.4 |
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Retinal degeneration; extinguished electro-retinograms; polydactyly; partial syndactyly; obesity at 5.5 years; similarly affected brother; see GM05952 Lymphoid |
| Wang L, Liu Y, Stratigopoulos G, Panigrahi SK, Sui L, LeDuc CA, Glover HJ, De Rosa MC, Burnett LC, Williams DJ, Shang L, Goland R, Tsang SH, Wardlaw SL, Egli D, Zheng D, Doege CA, Leibel RL, Bardet-Biedl Syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons The Journal of clinical investigation: 2021 |
| PubMed ID: 33630762 |
| |
| Barabino A, Flamier A, Hanna R, Héon E, Freedman BS, Bernier G, Deregulation of Neuro-Developmental Genes and Primary Cilium Cytoskeleton Anomalies in iPSC Retinal Sheets from Human Syndromic Ciliopathies Stem cell reports14:357-373 2019 |
| PubMed ID: 32160518 |
| Passage Frozen |
6 |
| Split Ratio |
1:2 |
| 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 |
| Supplement |
- |
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