Cellosaurus cell line UOMi007-A (CVCL

Cross-references
Cell line name	UOMi007-A
Synonyms	ACS-hiPSC-HPP1
Accession	CVCL_C0ZH
Resource Identification Initiative	To cite this cell line use: UOMi007-A (RRID:CVCL_C0ZH)
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=35700635). Mutation; HGNC; HGNC:438; ALPL; Simple; p.Gly334Asp (c.1001G>A) (G317D, 1177A); ClinVar=VCV000013672; Zygosity=Heterozygous (PubMed=35700635).
Disease	Hypophosphatasia (NCIt: C26798) Hypophosphatasia (ORDO: Orphanet_436)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	18Y
Category	Induced pluripotent stem cell
Publications	PubMed=35700635; DOI=10.1016/j.scr.2022.102839 Srivastava A., Jaryal R., Rockman-Greenberg C., Dhingra S. Establishment of a new human iPSC cell line (UOMi007-A) from a patient with hypophosphatasia. Stem Cell Res. 63:102839-102839(2022)
Cell line databases/resources	hPSCreg; UOMi007-A
Encyclopedic resources	Wikidata; Q114313209
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	5