Publication
| Rylaarsdam L, Rakotomamonjy J, Pope E, Guemez-Gamboa A, iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity Nature communications15:827 2024 |
| PubMed ID: 38280846 |
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| Records Return:
(5)
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| Catalog ID | Sex | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM27160 | Female | 39 YR | 3398 | mother | SCHUURS-HOEIJMAKERS SYNDROME; SHMS | GM |
| GM27159 | Female | 3 YR | 3398 | proband | SCHUURS-HOEIJMAKERS SYNDROME; SHMS | GM |
| GM03651 | Female | 25 YR | 3029 | proband | APPARENTLY HEALTHY INDIVIDUAL | GM |
| GM27161 | Male | 6 YR | | proband | SCHUURS-HOEIJMAKERS SYNDROME; SHMS | GM |
| GM03652 | Male | 24 YR | | proband | APPARENTLY HEALTHY INDIVIDUAL | GM |
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