NA05759
DNA from Fibroblast
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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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Race
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White
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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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| Remarks |
Hepatoductular hypoplasia, characteristic facies, and peripheral pulmonary stenosis; GM28558 (iPSC) |
| Brooks BM, Yeh CD, Beers J, Liu C, Cheng YS, Gorshkov K, Zou J, Zheng W, Chen CZ, Generation of an induced pluripotent stem cell line (TRNDi030-A) from a patient with Farber disease carrying a homozygous p Y36C (c 107 A>G) mutation in ASAH1 Stem cell research53:102387 2021 |
| PubMed ID: 34088014 |
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| Zhu W, Cheng YS, Xu M, Farkhondeh A, Beers J, Zou J, Liu C, Baumgaertel K, Rodems S, Zheng W, Generation of Alagille syndrome derived induced pluripotent stem cell line carrying heterozygous mutation in the JAGGED-1 gene at splicing site (Chr20: 10,629,709C>A) before exon 11 Stem cell research53:102366 2021 |
| PubMed ID: 34087995 |
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