Description:
APPARENTLY HEALTHY INDIVIDUAL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Apparently Healthy Collection |
| Alternate IDs |
GM18056 [APPARENTLY HEALTHY INDIVIDUAL] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Remarks |
Line HSC93; congenital dislocated hip |
| Suganuma T, Workman JL, MPTAC links alkylation damage signaling to sterol biosynthesis Redox biology51:102270 2022 |
| PubMed ID: 35189552 |
| |
| Sotamaa K, Liyanarachchi S, Mecklin JP, Järvinen H, Aaltonen LA, Peltomäki P, de la Chapelle A, p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome Clinical cancer research : an official journal of the American Association for Cancer Research11:6840-4 2005 |
| PubMed ID: 16203772 |
| |
| Sohar I, Sleat DE, Jadot M, Lobel P, Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models. J Neurochem73:700-11 1999 |
| PubMed ID: 10428067 |
| |
| Strathdee CA, Gavish H, Shannon WR, Buchwald M, Cloning of cDNAs for Fanconi's anaemia by functional complementation [published erratum appears in Nature 1992 Jul 30;358(6385):434] Nature356:763-7 1992 |
| PubMed ID: 1574115 |
|