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Cellosaurus UNIBSi010-A (CVCL_YB57)

[Text version]

Cell line name UNIBSi010-A
Synonyms iPSC-TCIRG1-C1
Accession CVCL_YB57
Resource Identification Initiative To cite this cell line use: UNIBSi010-A (RRID:CVCL_YB57)
Comments From: University of Brescia; Brescia; Italy.
Derived from sampling site: Peripheral blood.
Sequence variations Mutation; HGNC; 11647; TCIRG1; Simple; p.Tyr512Ter (c.1536C>A); Zygosity=Heterozygous (PubMed=31794943).
Mutation; HGNC; 11647; TCIRG1; Simple; c.2236+1G>A; ClinVar=VCV000558226; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=31794943).
Disease Autosomal recessive osteopetrosis 1 (NCIt: C167215)
Autosomal recessive malignant osteopetrosis (ORDO: Orphanet_667)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_YB58 ! UNIBSi010-B
CVCL_YB59 ! UNIBSi010-C
Sex of cell Male
Age at sampling 4-5M
Category Induced pluripotent stem cell
Publications

PubMed=31794943; DOI=10.1016/j.scr.2019.101660
Lanzi G., Ferraro R.M., Masneri S., Piovani G., Barisani C., Sobacchi C., Villa A., Vezzoni P., Giliani S.
Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by autosomal recessive osteopetrosis due to mutations in TCIRG1 gene.
Stem Cell Res. 42:101660-101660(2020)

Cross-references
Cell line databases/resources hPSCreg; UNIBSi010-A
Encyclopedic resources Wikidata; Q98134302
Entry history
Entry creation19-Dec-2019
Last entry update20-May-2021
Version number5