ID   INMi002-A-1
AC   CVCL_YR33
SY   USH2A-USH-iPSC clone B3B1
DR   Wikidata; Q94317993
RX   PubMed=31909088;
CC   From: Institute for Neurosciences of Montpellier; Montpellier; France.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12601; USH2A; Simple_corrected; p.Glu767Serfs*21 (c.2299delG); ClinVar=VCV000002351; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=31909088).
CC   Omics: Deep exome analysis.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126328; Usher syndrome type 2
DI   ORDO; Orphanet_231178; Usher syndrome type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_UJ76 ! INMi002-A
SX   Female
AG   59Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 6
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RX   PubMed=31909088; DOI=10.1016/j.omtm.2019.11.016;
RA   Sanjurjo-Soriano C., Erkilic N., Baux D., Mamaeva D., Hamel C.P.,
RA   Meunier I., Roux A.-F., Kalatzis V.;
RT   "Genome editing in patient iPSCs corrects the most prevalent USH2A
RT   mutations and reveals intriguing mutant mRNA expression profiles.";
RL   Mol. Ther. Methods Clin. Dev. 17:156-173(2020).
//