Description:
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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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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2
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Relation to Proband
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mother
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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 |
9 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Clinically unaffected; see GM09292 Lymphoid |
| Frison M, Faccenda D, Abeti R, Rigon M, Strobbe D, England-Rendon BS, Cash D, Barnes K, Sadeghian M, Sajic M, Wells LA, Xia D, Giunti P, Smith K, Mortiboys H, Turkheimer FE, Campanella M, The translocator protein (TSPO) is prodromal to mitophagy loss in neurotoxicity Molecular psychiatry: 2020 |
| PubMed ID: 33664474 |
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| Ratcliffe LE1, Vázquez Villaseñor I1, Jennings L1, Heath PR1, Mortiboys H1, Schwartzentruber A1, Karyka E1, Simpson JE1, Ince PG1, Garwood CJ2, Wharton SB1., Loss of IGF1R in Human Astrocytes Alters Complex I Activity and Support for Neurons Neuroscience: 2018 |
| PubMed ID: 30056117 |
| Passage Frozen |
9 |
| Split Ratio |
1:2 |
| 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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