ID   UMi031-A-2
AC   CVCL_A0ZU
SY   PGP-1 clone L5; HVRDi004-B-2
DR   hPSCreg; UMi031-A-2
DR   Wikidata; Q108821454
RX   PubMed=34352618;
CC   From: Miller School of Medicine, University of Miami; Miami; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7773; NF2; Simple_edited; p.Leu64Pro (c.191T>C); ClinVar=VCV001006297; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=34352618).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3274; Neurofibromatosis type 2
DI   ORDO; Orphanet_637; Neurofibromatosis type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_F182 ! GM23338
SX   Male
AG   55Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 10-09-24; Version: 6
//
RX   PubMed=34352618; DOI=10.1016/j.scr.2021.102474;
RA   Nourbakhsh A., Gosstola N.C., Fernandez-Valle C., Dykxhoorn D.M.,
RA   Liu X.-Z.;
RT   "Characterization of UMi031-A-2 inducible pluripotent stem cell line
RT   with a neurofibromatosis type 2-associated mutation.";
RL   Stem Cell Res. 55:102474-102474(2021).
//