GM12607
Fibroblast from Skin, Unspecified
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 |
Disorders of Uncertain Biochemical Etiology |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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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 |
1 |
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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 6 days of renal failure and pulmonary insufficiency; skin biopsy fibroblast culture; nephromegaly with sponge appearance; kidney showed cystic tubular dilatation extanding to suface; liver showed portal fibrosis with hamartomatous tortuous bile ducts; hyponatremia; hypotension; hyperbilirubinemia |
| 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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| Freedman BS, Lam AQ, Sundsbak JL, Iatrino R, Su X, Koon SJ, Wu M, Daheron L, Harris PC, Zhou J, Bonventre JV, Reduced ciliary polycystin-2 in induced pluripotent stem cells from polycystic kidney disease patients with PKD1 mutations Journal of the American Society of Nephrology : JASN24:1571-86 2013 |
| PubMed ID: 24009235 |
| Passage Frozen |
1 |
| Split Ratio |
1:5 |
| 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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