ID   SDQLCHi079-A
AC   CVCL_D6R0
DR   BioSamples; SAMEA115664991
DR   hPSCreg; SDQLCHi079-A
RX   PubMed=39053320;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Sequence variation: Mutation; HGNC; HGNC:16808; UBR1; Simple; c.1911+14C>G; Zygosity=Heterozygous (PubMed=39053320).
CC   Sequence variation: Mutation; HGNC; HGNC:16808; UBR1; Simple; p.Ser1056Ter (c.3167C>G); Zygosity=Heterozygous (PubMed=39053320).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C210826; Johanson-Blizzard syndrome
DI   ORDO; Orphanet_2315; Johanson-Blizzard syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
//
RX   PubMed=39053320; DOI=10.1016/j.scr.2024.103505;
RA   Wang, Bin
RA   Yang, Lu
RA   Gao, Min
RA   Zhang, Hai-Yan
RA   Ji, Ai-Hua
RA   Liu, Guo-Hua
RA   Liu, Yi
RT   "Establishment of a human induced pluripotent stem cell line
RT   (SDQLCHi079-A) from a patient with Johanson-Blizzard syndrome
RT   carrying heterozygous mutation in UBR1 gene.";
RL   Stem Cell Res. 80:103505-103505(2024).
//