Cellosaurus cell line SYSUSCi004-A (CVCL

Cross-references
Cell line name	SYSUSCi004-A
Synonyms	IMO-hiPSCs
Accession	CVCL_D0M3
Resource Identification Initiative	To cite this cell line use: SYSUSCi004-A (RRID:CVCL_D0M3)
Comments	From: Center for Stem Cell Biology and Tissue Engineering, Sun Yat-sen University; Guangzhou; China. Population: Chinese. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:11647; TCIRG1; Simple; p.Pro81Argfs*85 (c.242delC); ClinVar=VCV000551450; Zygosity=Heterozygous (PubMed=38335662). Mutation; HGNC; HGNC:11647; TCIRG1; Simple; p.Gln372Ter (c.1114C>T); ClinVar=VCV000830066; Zygosity=Heterozygous (PubMed=38335662).
Disease	Autosomal recessive osteopetrosis 1 (NCIt: C167215) Autosomal recessive malignant osteopetrosis (ORDO: Orphanet_667)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	1Y
Category	Induced pluripotent stem cell
Publications	PubMed=38335662; DOI=10.1016/j.scr.2024.103330 Rui Fang, Xiao-Lu Guo, Jian-Qi Feng, Qiu-Min Chen, Tao Wang, Jian-Ping Ma; Generation of an induced pluripotent stem cell line (SYSUSCi004-A) from a patient with infantile malignant osteopetrosis. Stem Cell Res. 76:103330-103330(2024)
Cell line databases/resources	hPSCreg; SYSUSCi004-A
Biological sample resources	BioSamples; SAMEA114184492
Encyclopedic resources	Wikidata; Q123033584
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	4