ID   SIPDi001-A
AC   CVCL_C1WU
DR   BioSamples; SAMEA12936824
DR   hPSCreg; SIPDi001-A
DR   Wikidata; Q114313019
RX   PubMed=37478672;
CC   From: Shaanxi Institute of Pediatric Diseases; Xi'an; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:20344; UBR7; Simple; p.Ser19Argfs*42 (c.35_54dup); ClinVar=VCV001294425; Zygosity=Heterozygous (PubMed=37478672).
CC   Sequence variation: Mutation; HGNC; HGNC:20344; UBR7; Simple; p.Leu288Pro (c.863T>C); ClinVar=VCV001292050; Zygosity=Heterozygous (PubMed=37478672).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C201589; Li-Campeau syndrome
DI   ORDO; Orphanet_528084; Non-specific syndromic intellectual disability
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   7Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 19-12-24; Version: 5
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RX   PubMed=37478672; DOI=10.1016/j.scr.2023.103165;
RA   Li, Ben-Chang
RA   Zhou, Ya-Fei
RA   Che, Feng-Yu
RA   Zhou, Rui
RA   Mo, LiDang-Zhi
RA   Zhang, Li-Yu
RA   Wang, Guo-Xia
RA   Yang, Ying
RT   "Establishment of a novel human induced pluripotent stem cell line
RT   (SIPDi001-A) with compound heterozygous mutations in the UBR7 gene
RT   from a Li-Campeau syndrome patient.";
RL   Stem Cell Res. 71:103165-103165(2023).
//