ID   ATCi001-A
AC   CVCL_B3XP
DR   hPSCreg; ATCi001-A
DR   Wikidata; Q110432582
RX   PubMed=34736036;
CC   From: Aegicare (Shenzhen) Technology Co; Shenzhen; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 30224; SLC52A2; Simple; p.Ala26Profs*42 (c.75_76insCCTGG); Zygosity=Heterozygous (PubMed=34736036).
CC   Sequence variation: Mutation; HGNC; 30224; SLC52A2; Simple; p.Cys278delinsCysLeuLeuGly (c.832_833insGCCTGCTGG); Zygosity=Heterozygous (PubMed=34736036).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C183529; Brown-Vialetto-van Laere syndrome 2
DI   ORDO; Orphanet_572543; RFVT2-related riboflavin transporter deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34736036; DOI=10.1016/j.scr.2021.102589;
RA   Ma J.-H., Ni K., Cai W., Li B.-Y., Qian Q.-Q., Sun D.;
RT   "Generation of an induced pluripotent stem cell line ATCi001-A from a
RT   three-year-old Chinese girl with Brown-Vialetto-Van Laere
RT   syndrome-2.";
RL   Stem Cell Res. 57:102589-102589(2021).
//