ID   UMi028-A-1
AC   CVCL_A1MI
SY   C1661_C5; C1661 clone C5
DR   hPSCreg; UMi028-A-1
DR   Wikidata; Q102115078
RX   PubMed=33038743;
CC   From: Miller School of Medicine, University of Miami; Miami; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 15459; P2RX2; Simple_edited; p.Val60Leu (c.178G>T); ClinVar=VCV000155762; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=33038743).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=33038743
ST   Amelogenin: X,Y
ST   CSF1PO: 10,12
ST   D13S317: 12,13
ST   D16S539: 11,12
ST   D18S51: 18,19
ST   D21S11: 30.2,32.2
ST   D3S1358: 16,17
ST   D5S818: 12,13
ST   D7S820: 10,12
ST   D8S1179: 12,15
ST   FGA: 23
ST   Penta D: 12,13
ST   Penta E: 10,14
ST   TH01: 6,7
ST   TPOX: 8,12
ST   vWA: 17,18
DI   NCIt; C175700; Deafness, autosomal dominant 41
DI   ORDO; Orphanet_90635; Autosomal dominant non-syndromic sensorineural deafness type DFNA
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A1MH ! UMi028-A
SX   Male
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=33038743; DOI=10.1016/j.scr.2020.102017;
RA   Gosstola N.C., Huang Z.-H., Tong X.-Y., Nourbakhsh A., Chen Z.-Y.,
RA   Dykxhoorn D.M., Liu X.-Z.;
RT   "Characterization of UMi028-A-1 stem cell line that contains a
RT   CRISPR/Cas9 induced hearing loss-associated variant (V60L (c.178G >T))
RT   in the P2RX2 gene.";
RL   Stem Cell Res. 49:102017-102017(2020).
//