Overview
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Description
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HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2)
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Aliquot Size
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10 µg each
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Price
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Commercial Pricing: $800.00
Academic and not-for-profit pricing: $800.00
Submitters: $800.00
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How to Order
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Online Ordering
Assurance Form (Must have current form on file)
Statement of Research Intent Form (Information will be entered electronically when order is placed. DO NOT fax form to Coriell Customer Service)
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| Catalog ID | Sex | Age at Sampling | Family | Relationship | Gene | Mutation | Affected |
| GM01531 | Male | 23 YR | 426 | proband | CFTR | PHE508DEL | Yes |
| GM11277 | Male | | 1883 | parent | CFTR | ILE507DEL | |
| GM11496 | Female | 16 YR | 1395 | proband | CFTR | GLY542TER | Yes |
| GM07552 | Female | 16 YR | 1064 | proband | CFTR | ARG553TER | Yes |
| | | | | | | PHE508DEL | Yes |
| GM08338 | Male | 39 YR | 1064 | in-law | CFTR | GLY551ASP | |
| GM07441 | Female | 20 YR | 1047 | proband | CFTR | 621+1G>T | Yes |
| | | | | | | IVS16,G>A,+1 (3120+1G>A) | Yes |
| | | | | | MTHFR | 677C>T | Yes |
| GM11859 | Female | 57 YR | | proband | CFTR | 2789+5G>A | Yes |
| GM11723 | Female | 44 YR | | parent | CFTR | TRP1282TER | |
| GM13591 | Female | 32 YR | | proband | CFTR | ARG117HIS | Yes |
| | | | | | | PHE508DEL | Yes |
| | | | | | HFE | HIS63ASP | Yes |
| | | | | | MTHFR | 677C>T | Yes |
| GM18799 | Female | 31 YR | | proband | CFTR | 2184delA | Yes |
| | | | | | | PHE508DEL | Yes |
| GM18800 | Female | 25 YR | | proband | CFTR | 1898+1 G>A | Yes |
| | | | | | | PHE508DEL | Yes |
| GM11860 | Female | 21 YR | | proband | CFTR | IVS19DS, +10 KB, C>T (3849+10kbC>T) | Yes |
| GM11280 | Female | | | proband | CFTR | 621+1G>T | Yes |
| | | | | | | 711+1G>T | Yes |
| GM11282 | Female | | | proband | CFTR | 621+1G>T | Yes |
| | | | | | | GLY85GLU | Yes |
| GM12585 | Male | 39 YR | | parent | CFTR | ARG1162TER | |
| GM12444 | Male | 37 YR | | parent | CFTR | IVS10AS, G>A, -1 (1717-1G>A) | |
| GM11472 | Male | 21 YR | | proband | CFTR | ASN1303LYS | Yes |
| | | | | | | GLY1349ASP | Yes |
| GM12785 | Male | 11 YR | | proband | CFTR | ARG347PRO | Yes |
| | | | | | | GLY551ASP | Yes |
| GM12960 | Male | 10 YR | | proband | CFTR | ARG334TRP | Yes |
| GM11275 | Male | | | proband | CFTR | 1-BP DEL, 3659C | Yes |
| | | | | | | PHE508DEL | Yes |
| GM11281 | Male | | | proband | CFTR | 621+1G>T | Yes |
| | | | | | | PHE508DEL | Yes |
| GM11283 | Male | | | proband | CFTR | ALA455GLU | Yes |
| | | | | | | PHE508DEL | Yes |
| GM11284 | Male | | | proband | CFTR | ARG560THR | Yes |
| | | | | | | PHE508DEL | Yes |
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