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Cellosaurus UOMi007-A (CVCL_C0ZH)

[Text version]
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; 438; ALPL; Simple; p.Glu191Lys (c.571G>A) (E174K); ClinVar=VCV000013670; Zygosity=Heterozygous (PubMed=35700635).
  • Mutation; 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)

Cross-references
Cell line databases/resources hPSCreg; UOMi007-A
Encyclopedic resources Wikidata; Q114313209
Entry history
Entry creation22-Sep-2022
Last entry update29-Jun-2023
Version number4