ID   UNIBSi010-A
AC   CVCL_YB57
SY   iPSC-TCIRG1-C1
DR   hPSCreg; UNIBSi010-A
DR   Wikidata; Q98134302
RX   PubMed=31794943;
CC   From: University of Brescia; Brescia; Italy.
CC   Sequence variation: Mutation; HGNC; 11647; TCIRG1; Simple; p.Tyr512Ter (c.1536C>A); Zygosity=Heterozygous (PubMed=31794943).
CC   Sequence variation: Mutation; HGNC; 11647; TCIRG1; Simple; c.2236+1G>A; ClinVar=VCV000558226; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=31794943).
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)
OI   CVCL_YB58 ! UNIBSi010-B
OI   CVCL_YB59 ! UNIBSi010-C
SX   Male
AG   4-5M
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=31794943; DOI=10.1016/j.scr.2019.101660;
RA   Lanzi G., Ferraro R.M., Masneri S., Piovani G., Barisani C.,
RA   Sobacchi C., Villa A., Vezzoni P., Giliani S.C.;
RT   "Generation of 3 clones of induced pluripotent stem cells (iPSCs) from
RT   a patient affected by autosomal recessive osteopetrosis due to
RT   mutations in TCIRG1 gene.";
RL   Stem Cell Res. 42:101660-101660(2020).
//