The McDermott Center Human Genetics Clinical Lab is dedicated to help accelerate the pace of human genetic research by providing skilled assistance with collecting and storing biologic specimens.

Cancellation/No-show Due to the heavy use of our microscopes, we require that if you have to cancel your session, you do so at least 12 hours before the scheduled start time. If you cannot connect to the scheduler or are within the 12-hour time window, please contact us . Failure to cancel in time will result in an invoice for the entire scheduled duration. Back-to top

Find out how to prepare and submit samples to the Metabolomics Core Facility.

Formulation It is frequently necessary for most hydrophobic small molecules to develop a specific formulation that will allow in vivo delivery of the compound at suitable concentrations. The Pharmacology Core makes use of a simple decision tree published some years ago by scientists at Pfizer for development of solution formulations for IV and IP dosing (1). This method gradually tests solubility of the compound in aqueous buffers, with changes in pH as appropriate to the compound’s pka, then

Ultrasound images from the Small Animal Imaging Resource (UT-SAIR).

BioScan NanoSPECT/CT Plus is an imaging tool available to researchers through the UT Small Animal Imaging Resource (UT-SAIR).

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1 Napierala Lab protocol for culturing human iPSCs (May 2022) For details, please refer to “Maintenance of Human Pluripotent Stem Cells in mTeSR™1” Technical Manual (STEMCELL Technologies). Necessary Reagents Reagent Company Catalog Number BD MATRIGEL HESC-QUALIFIED Fisher Scientific 08-774-552 mTeSRTM1 Complete Kit STEMCELL Technologies 85850 Cryostor CS10 STEMCELL Technologies 07930 Dispase 1U/mL, 100mL STEMCELL Technologies 07923 Stemolecule Y27632 Stemgent 04-0012

1 Sendai virus reprogrammed iPSC Lines Line Clone# Sex GAA repeat number in fibroblasts GAA repeat number in iPSCs Earliest passage Karyotype data Karyotype passage 1 CTRL 3348 6 M Control size Control size P5 Yes, normal P11 2 CTRL 7522 5 F Control size Control size P9 Yes, normal P15 3 CTRL 6718 1 M Control size Control size P2 Yes, normal P4 4 CTRL 6718 6 M Control size Control size P2 Yes, normal P4 5 CTRL 6719 1 F Control size Control size

1 FRDA fibroblasts Short alleles <499 repeats Medium alleles 500 – 999 repeats Long alleles >1000 repeats B - indicates line established from a second, independent skin biopsy of the same individual Cell Line Sex Sampling Age Age of Onset GAA repeats Allele 1 Allele 2 4 M 30 11 597 848 21 M 35 8 622 738 50 M 33 13 353 616 66 M 70 41 110 590 68 F 21 7 570 1200 86 F 30 18 367 780 88 F 50 16 520 520 90 F 29 7 556 556 90B F 33 7 570 570 130 M 56 41