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Cellosaurus SYSUSCi004-A (CVCL_D0M3)

[Text version]
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; 11647; TCIRG1; Simple; p.Pro81Argfs*85 (c.242delC); ClinVar=VCV000551450; Zygosity=Heterozygous (PubMed=38335662).
  • Mutation; 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
Fang R., Guo X.-L., Feng J.-Q., Chen Q.-M., Wang T., Ma J.-P.
Generation of an induced pluripotent stem cell line (SYSUSCi004-A) from a patient with infantile malignant osteopetrosis.
Stem Cell Res. 76:103330-103330(2024)

Cross-references
Cell line databases/resources hPSCreg; SYSUSCi004-A
Biological sample resources BioSamples; SAMEA114184492
Encyclopedic resources Wikidata; Q123033584
Entry history
Entry creation05-Oct-2023
Last entry update10-Sep-2024
Version number3