GM16728
Fibroblast from Skin, Unspecified
Description:
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2
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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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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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Race
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White
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Ethnicity
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FRENCH CANADIAN
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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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| 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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| alkylglycerone-phosphate synthase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.5.1.26 |
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| Remarks |
Clinically affected; feeding difficulty; multiple timy cataracts; mild hepatomegaly; normal limbs without rhizomelia; mild diffuse hypotonia; stippling of epiphyses, particularly striking in knees; markedly reduced plasmalogens; deficiency of enzyme DHAP-AT; moderate to severe delays in motor and cognitive function; see GM16776 Lymphoid |
| Elias ER, Mobassaleh M, Hajra AK, Moser AB, Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency. Am J Med Genet80(3):223-6 1998 |
| PubMed ID: 9843043 |
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| Moser AB, Rasmussen M, Naidu S, Watkins PA, McGuinness M, Hajra AK, Chen G, Raymond G, Liu A, Gordon D, et al, Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. J Pediatr127(1):13-22 1995 |
| PubMed ID: 7541833 |
| 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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