ID   SYSUSCi004-A
AC   CVCL_D0M3
SY   IMO-hiPSCs
DR   BioSamples; SAMEA114184492
DR   hPSCreg; SYSUSCi004-A
DR   Wikidata; Q123033584
RX   PubMed=38335662;
CC   From: Center for Stem Cell Biology and Tissue Engineering, Sun Yat-sen University; Guangzhou; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 11647; TCIRG1; Simple; p.Pro81Argfs*85 (c.242delC); ClinVar=VCV000551450; Zygosity=Heterozygous (PubMed=38335662).
CC   Sequence variation: Mutation; HGNC; 11647; TCIRG1; Simple; p.Gln372Ter (c.1114C>T); ClinVar=VCV000830066; Zygosity=Heterozygous (PubMed=38335662).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C167215; Autosomal recessive osteopetrosis 1
DI   ORDO; Orphanet_667; Autosomal recessive malignant osteopetrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 10-09-24; Version: 3
//
RX   PubMed=38335662; DOI=10.1016/j.scr.2024.103330;
RA   Fang R., Guo X.-L., Feng J.-Q., Chen Q.-M., Wang T., Ma J.-P.;
RT   "Generation of an induced pluripotent stem cell line (SYSUSCi004-A)
RT   from a patient with infantile malignant osteopetrosis.";
RL   Stem Cell Res. 76:103330-103330(2024).
//