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Gene Sample List
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Please click on the Excel icon at the upper right to obtain an excel file of the detailed Clinical Data Elements (phenotypic characterizations) for these samples.
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| Records Return:
(6)
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| Catalog ID | Description | Allele 1 | Allele 2 | Cell Type | Sex | Age | Race | Affected |
| GM01390 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | G216R | del nt1050-54; GAAGA ex10 | Fibroblast | Male | 3 MO | White | Yes |
| GM02436 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | | | Fibroblast | Female | | White | Yes |
| GM11411 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | | | B-Lymphocyte | Male | 4 MO | White | Yes |
| GM11412 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | | | B-Lymphocyte | Female | | White | No |
| GM11413 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | | | B-Lymphocyte | Male | | White | No |
| GM23232 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 646G>A | del nt1050-54; GAAGA ex10 | Stem cell | Male | 3 MO | White | Yes |
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