Description:
ALAGILLE SYNDROME 1; ALGS1
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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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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 |
6 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Hepatoductular hypoplasia documented by laparotomy & liver biopsy; pulmonic stenosis; butterfly vertebrae; classic facies; malformation of iris (embryotoxon); polyarthritis; see GM11033 Lymph |
| Brooks BM, Pradhan M, Cheng YS, Gorshkov K, Farkhondeh A, Chen CZ, Beers J, Liu C, Baumgaertel K, Rodems S, Zheng W, Generation of an induced pluripotent stem cell line (TRNDi031-A) from a patient with Alagille syndrome type 1 carrying a heterozygous p C312X (c 936 T > A) mutation in JAGGED-1 Stem cell research54:102447 2021 |
| PubMed ID: 34198154 |
| Passage Frozen |
6 |
| 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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