ID   LZUi002-A
AC   CVCL_C0H7
SY   iPSC 81
DR   hPSCreg; LZUi002-A
DR   Wikidata; Q112930034
RX   PubMed=35339883;
CC   From: Lanzhou University Second Hospital; Lanzhou; China.
CC   Population: Chinese/Asian ethnic group: Uyghur.
CC   Sequence variation: Mutation; HGNC; 11585; TBL1X; Simple; c.342_343insGCGGCG; Zygosity=Hemizygous (PubMed=35339883).
CC   Derived from site: In situ; Arm, skin, dermis; UBERON=UBERON_0002427+UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C27644; Deafness
DI   ORDO; Orphanet_87884; Non-syndromic genetic deafness
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   34Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 5
//
RX   PubMed=35339883; DOI=10.1016/j.scr.2022.102761;
RA   Wang Y.-L., Liu Z.-P., Chen C., Li Y., Guan M.-X., Xu B.-C., Guo Y.-F.;
RT   "Verification of an iPSC line (LZUi002-A) from a patient with a novel
RT   mutation in the TBL1X gene.";
RL   Stem Cell Res. 61:102761-102761(2022).
//