HD100AA-2
HUMAN VARIATION PANEL
Description:
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 (VERSION 2)
Aliquot Size:
10 µg each
Sex:
Males: 17 Females: 83
Brief Description:
The African-American Panel of 100 version 2 consists of samples of 100 self-declared African-Americans who are unrelated and apparently healthy. There are 83 females and 17 males in this panel. The individual cell cultures of this panel are labeled GM17101 to GM17200. In version 2, GM17163 and GM17195 have been replaced with GM14496 and GM14544. The individual DNA samples are labeled NA17101 to NA17200. In version 2, NA17163 and NA17195 have been replaced with NA14496 and NA14544. These Human Variation Panel samples have been genotyped with the Affymetrix Genome-Wide Human SNP Array 6.0 platform and the genotyping data has been deposited in the Database of Genotypes and Phenotypes (dbGaP) in the study "Genotyping 400 Samples from the NIGMS Human Variation Panels" (Study Accession: phs000211.v1.p1). Details Some samples in the Human Variation Collection have been assigned a second catalogue number to indicate inclusion in the Human Variation Collection in addition to their original catalogue number. A complete list of the alternative sample numbers can be downloaded as an Excel file.
| Liu T, Wang FS, Cheah FSH, Gu Y, Shaw M, Law HY, Tay SKH, Lee CG, Nelson DL, Gecz J, Chong SS, Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR The Journal of molecular diagnostics : JMD: 2020 |
| PubMed ID: 34111553 |
| Catalog ID | Sex | Family | Relationship | Gene | Mutation | Affected |
| NA17155 | Female | 2991 | proband | | | No |
| NA17194 | Female | 2985 | sister | | | No |
| NA14544 | Female | 1746 | twin sister | | | No |
| NA14496 | Female | 1731 | twin sister | | | No |
| NA17160 | Female | | | | | No |
| NA17123 | Female | | | | | No |
| NA17129 | Female | | | UGT1A1 | 5 TA Repeats (Mono), 6 TA Repeats (Mono) | No |
| NA17193 | Female | | | | | No |
| NA17110 | Female | | | | | No |
| NA17124 | Female | | | | | No |
| NA17156 | Female | | | | | No |
| NA17181 | Female | | | | | No |
| NA17113 | Female | | | UGT1A1 | 6 TA Repeats (Bi) | No |
| NA17175 | Female | | | | | No |
| NA17112 | Female | | | | | No |
| NA17149 | Female | | | | | No |
| NA17153 | Female | | | | | No |
| NA17145 | Female | | | | | No |
| NA17162 | Female | | | | | No |
| NA17168 | Female | | | | | No |
| NA17136 | Female | | | | | No |
| NA17141 | Female | | | | | No |
| NA17167 | Female | | | | | No |
| NA17169 | Female | | | | | No |
| NA17187 | Female | | | | | No |
| NA17120 | Female | | | UGT1A1 | 5 TA Repeats (Mono), 7 TA Repeats (Mono) | No |
| NA17128 | Female | | | | | No |
| NA17133 | Female | | | | | No |
| NA17140 | Female | | | | | No |
| NA17154 | Female | | | | | No |
| NA17165 | Female | | | | | No |
| NA17173 | Female | | | | | No |
| NA17132 | Female | | | | | No |
| NA17139 | Female | | | UGT1A1 | 5 TA Repeats (Mono), 8 TA Repeats (Mono) | No |
| NA17150 | Female | | | | | No |
| NA17118 | Female | | | UGT1A1 | 7 TA Repeats (Mono), 8 TA Repeats (Mono) | No |
| NA17148 | Female | | | | | No |
| NA17171 | Female | | | | | No |
| NA17121 | Female | | | | | No |
| NA17151 | Female | | | | | No |
| NA17172 | Female | | | | | No |
| NA17177 | Female | | | | | No |
| NA17178 | Female | | | | | No |
| NA17196 | Female | | | | | No |
| NA17119 | Female | | | UGT1A1 | 6 TA Repeats (Mono), 8 TA Repeats (Mono) | No |
| NA17158 | Female | | | | | No |
| NA17179 | Female | | | | | No |
| NA17137 | Female | | | | | No |
| NA17116 | Female | | | | | No |
| NA17142 | Female | | | | | No |
| NA17185 | Female | | | | | No |
| NA17188 | Female | | | | | No |
| NA17190 | Female | | | | | No |
| NA17126 | Female | | | | | No |
| NA17134 | Female | | | | | No |
| NA17157 | Female | | | | | No |
| NA17166 | Female | | | | | No |
| NA17198 | Female | | | | | No |
| NA17130 | Female | | | UGT1A1 | 6 TA Repeats (Mono), 8 TA Repeats (Mono) | No |
| NA17131 | Female | | | UGT1A1 | 5 TA Repeats (Mono), 7 TA Repeats (Mono) | No |
| NA17138 | Female | | | | | No |
| NA17159 | Female | | | | | No |
| NA17184 | Female | | | | | No |
| NA17189 | Female | | | | | No |
| NA17192 | Female | | | | | No |
| NA17197 | Female | | | | | No |
| NA17199 | Female | | | | | No |
| NA17144 | Female | | | | | No |
| NA17186 | Female | | | | | No |
| NA17135 | Female | | | | | No |
| NA17143 | Female | | | | | No |
| NA17147 | Female | | | | | No |
| NA17161 | Female | | | | | No |
| NA17176 | Female | | | | | No |
| NA17180 | Female | | | | | No |
| NA17146 | Female | | | | | No |
| NA17191 | Female | | | | | No |
| NA17122 | Female | | | | | No |
| NA17182 | Female | | | | | No |
| NA17183 | Female | | | | | No |
| NA17170 | Female | | | | | Yes |
| NA17127 | Female | | | UGT1A1 | 5 TA Repeats (Mono), 8 TA Repeats (Mono) | No |
| NA17164 | Female | | | | | No |
| NA17104 | Male | | | | | No |
| NA17200 | Male | | | | | Yes |
| NA17105 | Male | | | | | No |
| NA17111 | Male | | | | | No |
| NA17102 | Male | | | | | No |
| NA17103 | Male | | | | | No |
| NA17152 | Male | | | | | No |
| NA17109 | Male | | | | | No |
| NA17125 | Male | | | | | No |
| NA17108 | Male | | | | | No |
| NA17117 | Male | | | | | No |
| NA17107 | Male | | | | | No |
| NA17115 | Male | | | HLA-B, UGT1A1 | 7 TA Repeats (Bi), HLA-B*5703 (Mono) | No |
| NA17101 | Male | | | | | No |
| NA17114 | Male | | | UGT1A1 | 6 TA Repeats (Mono), 7 TA Repeats (Mono) | No |
| NA17174 | Male | | | | | Yes |
| NA17106 | Male | | | | | No |
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Version 2 contains unrelated individuals. A small number of samples in the previous version were found to be related. More Information
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