Cellosaurus cell line UOMi008-A (CVCL

Cross-references
Cell line name	UOMi008-A
Synonyms	ACS-hiPSC-HPP2
Accession	CVCL_C0ZI
Resource Identification Initiative	To cite this cell line use: UOMi008-A (RRID:CVCL_C0ZI)
Comments	From: University of Manitoba; Winnipeg; Canada. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:438; ALPL; Simple; p.Glu191Lys (c.571G>A) (E174K); ClinVar=VCV000013670; Zygosity=Heterozygous (PubMed=35964540). Mutation; HGNC; HGNC:438; ALPL; Simple; p.Gly334Asp (c.1001G>A) (G317D, 1177A); ClinVar=VCV000013672; Zygosity=Heterozygous (PubMed=35964540).
Disease	Hypophosphatasia (NCIt: C26798) Hypophosphatasia (ORDO: Orphanet_436)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	14Y
Category	Induced pluripotent stem cell
Publications	PubMed=35964540; DOI=10.1016/j.scr.2022.102891 Abhay Srivastava, Elika Verma, Cheryl Rockman-Greenberg, Sanjiv Dhingra; Generation of new human iPSC cell line (UOMi008-A) from a hypophosphatasia patient. Stem Cell Res. 64:102891-102891(2022)
Cell line databases/resources	hPSCreg; UOMi008-A
Biological sample resources	BioSamples; SAMEA110191722
Encyclopedic resources	Wikidata; Q114313210
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	5