Description:
POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; PKHD1
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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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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 |
Expired at age 1 day; oligohydramnios; bilateral contractures of lower extremities; minor external ear abnormality; pulmonary hypoplasia; congenital hepatic fibrosis; 46,XY in spleen biopsy; negative family history |
| Liu M, Zhang C, Gong X, Zhang T, Lian MM, Chew EGY, Cardilla A, Suzuki K, Wang H, Yuan Y, Li Y, Naik MY, Wang Y, Zhou B, Soon WZ, Aizawa E, Li P, Low JH, Tandiono M, Montagud E, Moya-Rull D, Rodriguez Esteban C, Luque Y, Fang M, Khor CC, Montserrat N, Campistol JM, Izpisua Belmonte JC, Foo JN, Xia Y, Kidney organoid models reveal cilium-autophagy metabolic axis as a therapeutic target for PKD both in vitro and in vivo Cell stem cell31:52-70.e8 2023 |
| PubMed ID: 38181751 |
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| Low JH, Li P, Chew EGY, Zhou B, Suzuki K, Zhang T, Lian MM, Liu M, Aizawa E, Rodriguez Esteban C, Yong KSM, Chen Q, Campistol JM, Fang M, Khor CC, Foo JN, Izpisua Belmonte JC, Xia Y, Generation of Human PSC-Derived Kidney Organoids with Patterned Nephron Segments and a De Novo Vascular Network Cell stem cell31:52-70.e8 2018 |
| PubMed ID: 31303547 |
| Passage Frozen |
6 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
MEM (Eagle) Alpha Modification with nucleosides with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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