当室に寄託されている脊髄小脳変性症 / Spinocerebellar degeneration 患者由来iPS細胞について、脊髄小脳変性症関連、8遺伝子領域の反復配列のリピート数を解析した。
対象細胞株：20細胞（20患者）
解析対象遺伝子（関連疾患）：ATXN1 (SCA1), ATXN2 (SCA2), ATXN3 (SCA3), CACNA1A (SCA6), ATXN8OS (SCA8), TBP (SCA17), ATN1 (DRPLA), BEAN (SCA31)
解析方法：マルチプレックスPCRによりATXN1, ATXN2, ATXN3, CACNA1A, ATXN8OS, TBP, ATN1の7遺伝子領域におけるリピート数を測定。Repeat Primed PCR によりBEAN遺伝子領域の特定配列のリピート挿入の有無を測定。
結果：
| Cell No. | Age | Sex | ATXN1 (SCA1) | ATXN2 (SCA2) | ATXN3 (SCA3) | CACNA1A (SCA6) | ATXN8OS (SCA8) | TBP (SCA17) | ATN1 (DRPLA) | BEAN (SCA31) | other clones derived from the same patient |
|---|---|---|---|---|---|---|---|---|---|---|---|
| HPS0425 | 50s | M | 26/28 | 19/22 | 14/24 | 13/23 | 27/29 | 36/39 | 13/18 | normal | |
| HPS0464 | 40s | M | 29/31 | 22/22 | 24/74 | 11/14 | 18/30 | 37/39 | 13/17 | normal | HPS0465, HPS0466 |
| HPS0467 | 30s | F | 26/29 | 22/22 | 14/79 | 11/13 | 23/27 | 36/37 | 10/11 | normal | HPS0468, HPS0469 |
| HPS0570 | 50s | M | 28/29 | 19/22 | 14/14 | 11/13 | 23/29 | 28/37 | 7/23 | normal | HPS0571, HPS0572, HPS0573, HPS0574, HPS0575 |
| HPS0582 | 60s | F | 29/31 | 22/22 | 14/19 | 7/11 | 25/27 | 39/41 | 12/17 | normal | HPS0583, HPS0584, HPS0585, HPS0586, HPS0587 |
| HPS0588 | 50s | M | 29/30 | 22/22 | 27/33 | 11/11 | 18/18 | 36/37 | 13/20 | normal | HPS0589, HPS0590, HPS0591, HPS0592, HPS0593 |
| HPS0594 | 30s | F | 29/30 | 22/22 | 14/84 | 11/13 | 24/27 | 36/36 | 11/13 | normal | HPS0595, HPS0596, HPS0597, HPS0598, HPS0599 |
| HPS0600 | 30s | M | 28/31 | 22/22 | 38/78 | 12/13 | 18/26 | 32/36 | 8/17 | normal | HPS0601, HPS0602, HPS0603, HPS0604, HPS0605 |
| HPS0606 | 50s | F | 23/26 | 22/22 | 14/75 | 13/14 | 23/27 | 36/38 | 17/17 | normal | HPS0607, HPS0608, HPS0609, HPS0610, HPS0611 |
| HPS0776 | 60s | M | 26/28 | 22/22 | 19/27 | 11/14 | 27/28 | 36/36 | 11/13 | normal | HPS0777, HPS0778, HPS0779, HPS0780, HPS0781 |
| HPS0806 | 60s | F | 28/30 | 22/43 | 14/27 | 13/14 | 18/30 | 36/36 | 17/18 | normal | HPS0807, HPS0808, HPS0809, HPS0810, HPS0811 |
| HPS0836 | 60s | M | 23/29 | 22/22 | 14/14 | 13/13 | 25/26 | 36/37 | 10/15 | normal | HPS0837, HPS0838, HPS0839, HPS0840, HPS0841 |
| HPS1035 | 60s | M | 28/28 | 22/22 | 14/14 | 12/13 | 18/27 | 36/36 | 10/15 | normal | |
| HPS1725 | 20s | F | 26/26 | 22/22 | 19/36 | 12/13 | 24/27 | 36/37 | 15/68 | normal | |
| HPS1726 | 20s | M | 26/30 | 22/22 | 14/26 | 13/13 | 24/32 | 36/37 | 11/67 | normal | HPS1727 |
| HPS1740 | 40s | F | 26/45 | 22/22 | 14/29 | 7/13 | 23/27 | 36/36 | 17/17 | normal | |
| HPS1741 | 60s | M | 29/43 | 22/22 | 14/27 | 12/13 | 24/27 | 36/36 | 17/17 | normal | |
| HPS1887 | 60s | M | 26/29 | 22/22 | 14/14 | 23/23 | 18/29 | 36/37 | 15/17 | normal | |
| HPS1888 | 50s | M | 26/30 | 22/22 | 14/14 | 14/27 | 27/28 | 36/36 | 10/10 | normal | HPS1889 |
| HPS1898 | 70s | F | 26/29 | 22/22 | 14/27 | 7/15 | 18/18 | 36/39 | 15/19 | repeat inserted | HPS1899 |
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