ID   UOMi007-A
AC   CVCL_C0ZH
SY   ACS-hiPSC-HPP1
DR   hPSCreg; UOMi007-A
DR   Wikidata; Q114313209
RX   PubMed=35700635;
CC   From: University of Manitoba; Winnipeg; Canada.
CC   Sequence variation: Mutation; HGNC; 438; ALPL; Simple; p.Glu191Lys (c.571G>A) (E174K); ClinVar=VCV000013670; Zygosity=Heterozygous (PubMed=35700635).
CC   Sequence variation: Mutation; HGNC; 438; ALPL; Simple; p.Gly334Asp (c.1001G>A) (G317D, 1177A); ClinVar=VCV000013672; Zygosity=Heterozygous (PubMed=35700635).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C26798; Hypophosphatasia
DI   ORDO; Orphanet_436; Hypophosphatasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   18Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35700635; DOI=10.1016/j.scr.2022.102839;
RA   Srivastava A., Jaryal R., Rockman-Greenberg C., Dhingra S.;
RT   "Establishment of a new human iPSC cell line (UOMi007-A) from a
RT   patient with hypophosphatasia.";
RL   Stem Cell Res. 63:102839-102839(2022).
//