Derivation of two iPSC lines (KAIMRCi004-A, KAIMRCi004-B) from a Saudi patient with Biotin-Thiamine-responsive Basal Ganglia Disease (BTBGD) carrying homozygous pathogenic missense variant in the SCL19A3 gene
从一名患有生物素-硫胺素反应性基底神经节疾病 (BTBGD) 的沙特患者体内衍生出两条 iPSC 系 (KAIMRCi004-A、KAIMRCi004-B)，该患者携带 SCL19A3 基因的纯合致病错义变异
期刊:Human Cell
影响因子:3.4
doi:10.1007/s13577-024-01097-4
Maryam Alowaysi #, Moayad Baadhaim #, Mohammad Al-Shehri, Hajar Alzahrani, Amani Badkok, Hanouf Attas, Samer Zakri, Seham Alameer, Dalal Malibari, Manal Hosawi, Mustafa Daghestani, Khalid Al-Ghamdi, Mohammed Muharraq, Asima Zia, Jesper Tegne, Majid Alfadhel, Doaa Aboalola, Khaled Alsayegh
