ID   SDQLCHi039-A
AC   CVCL_A4XG
DR   hPSCreg; SDQLCHi039-A
DR   Wikidata; Q107116893
RX   PubMed=33453577;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:1133; BTK; Simple; p.Tyr510_Glu513delGluTyrLeuGluinsGlu (c.1530_1538delATACCTGGA); Zygosity=Hemizygous (PubMed=33453577).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3822; X-linked agammaglobulinemia
DI   ORDO; Orphanet_47; X-linked agammaglobulinemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y5M
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=33453577; DOI=10.1016/j.scr.2021.102165;
RA   Liu, Ning
RA   Yang, Xiao-Meng
RA   Wang, Su-Lan
RA   Dong, Rui
RA   Li, Yue
RA   Lv, Yu-Qiang
RA   Liu, Yi
RA   Gai, Zhong-Tao
RT   "PBMC-derived integration-free iPSCs line SDQLCHi039-A from a patient
RT   with X-linked agammaglobulinemia carrying a novel 9-bp in-frame
RT   deletion in BTK gene.";
RL   Stem Cell Res. 51:102165-102165(2021).
//