Cellosaurus cell line CIMAi001-A (CVCL

Cellosaurus CIMAi001-A (CVCL_YC91)

Cross-references
Cell line name	CIMAi001-A
Synonyms	PH1-iPSC-G170R
Accession	CVCL_YC91
Resource Identification Initiative	To cite this cell line use: CIMAi001-A (RRID:CVCL_YC91)
Comments	Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection. From: Centro de Investigacion Medica Aplicada (CIMA); Pamplona; Spain. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:341; AGXT; Simple; p.Arg122Ter (c.364C>T); ClinVar=VCV000204097; Zygosity=Heterozygous (PubMed=31715429). Mutation; HGNC; HGNC:341; AGXT; Simple; p.Gly170Arg (c.508G>A); ClinVar=VCV000040166; Zygosity=Heterozygous (PubMed=31715429).
Disease	Primary hyperoxaluria type I (NCIt: C123212) Primary hyperoxaluria type 1 (ORDO: Orphanet_93598)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	30Y
Category	Induced pluripotent stem cell
Publications	PubMed=31715429; DOI=10.1016/j.scr.2019.101626 Martinez-Turrillas R., Rodriguez-Diaz S., Rodriguez-Marquez P., Martin-Mallo A., Salido E., Beck B.B., Prosper F., Rodriguez-Madoz J.R. Generation of an induced pluripotent stem cell line (CIMAi001-A) from a compound heterozygous primary hyperoxaluria type I (PH1) patient carrying p.G170R and p.R122* mutations in the AGXT gene. Stem Cell Res. 41:101626-101626(2019)
Cell line databases/resources	hPSCreg; CIMAi001-A
Encyclopedic resources	Wikidata; Q93453553
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	10