Description:
CRIGLER-NAJJAR SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
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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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HISPANIC
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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 |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| glucuronosyltransferase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.4.1.17; 0% activity. |
| |
| Remarks |
Jaundice; chronic unconjugated hyperbilirubinemia; Type 1: a liver biopsy showed an absence of glucuronyl transferase activity; parents exhibit a deficiency in the glucuronyl transferase responsiible for the conjugation of methanol |
| Graffmann N, Martins S, Ljubikj T, Matte JC, Bohndorf M, Wruck W, Adjaye J, Generation of a Crigler-Najjar Syndrome Type I patient-derived induced pluripotent stem cell line CNS705 (HHUUKDi005-A) Stem cell research51:102167 2020 |
| PubMed ID: 33485181 |
| Passage Frozen |
2 |
| Split Ratio |
1:4 |
| 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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