Cellosaurus cell line SIPDi001-A (CVCL

Cross-references
Cell line name	SIPDi001-A
Accession	CVCL_C1WU
Resource Identification Initiative	To cite this cell line use: SIPDi001-A (RRID:CVCL_C1WU)
Comments	From: Shaanxi Institute of Pediatric Diseases; Xi'an; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:20344; UBR7; Simple; p.Ser19Argfs*42 (c.35_54dup); ClinVar=VCV001294425; Zygosity=Heterozygous (PubMed=37478672). Mutation; HGNC; HGNC:20344; UBR7; Simple; p.Leu288Pro (c.863T>C); ClinVar=VCV001292050; Zygosity=Heterozygous (PubMed=37478672).
Disease	Li-Campeau syndrome (NCIt: C201589) Non-specific syndromic intellectual disability (ORDO: Orphanet_528084)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	7Y
Category	Induced pluripotent stem cell
Publications	PubMed=37478672; DOI=10.1016/j.scr.2023.103165 Ben-Chang Li, Ya-Fei Zhou, Feng-Yu Che, Rui Zhou, LiDang-Zhi Mo, Li-Yu Zhang, Guo-Xia Wang, Ying Yang; Establishment of a novel human induced pluripotent stem cell line (SIPDi001-A) with compound heterozygous mutations in the UBR7 gene from a Li-Campeau syndrome patient. Stem Cell Res. 71:103165-103165(2023)
Cell line databases/resources	hPSCreg; SIPDi001-A
Biological sample resources	BioSamples; SAMEA12936824
Encyclopedic resources	Wikidata; Q114313019
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	5