ID   WAe009-A-82
AC   CVCL_B5QN
SY   SMUDHe010-A-82
DR   BioSamples; SAMEA12121387
DR   hPSCreg; WAe009-A-82
DR   Wikidata; Q112041926
RX   PubMed=35714449;
CC   From: Southern Medical University; Guangzhou; China.
CC   Sequence variation: Mutation; HGNC; 8507; OSMR; Simple_edited; p.Gly513Asp (c.1538G>A); ClinVar=VCV000802119; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=35714449).
DI   NCIt; C189282; Familial primary localized cutaneous amyloidosis-1
DI   ORDO; Orphanet_353220; Familial primary localized cutaneous amyloidosis
OX   NCBI_TaxID=9606; ! Homo sapiens
HI   CVCL_9773 ! WA09
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 17-03-22; Last updated: 22-09-22; Version: 3
//
RX   PubMed=35714449; DOI=10.1016/j.scr.2022.102842;
RA   Zheng W., Zhong Y.-D., Yuan L.-Y., Yu X.-L., Wang X., Yang C.,
RA   Liu H.-T., Lv P., Luo Y.-Y., Qiu B.-Y., Liu J., Yang B.;
RT   "Generation of a human embryonic stem cell line (SMUDHe010-A-82)
RT   carrying a homozygous c.1538G > A (p.G513D) mutation in the OSMR gene
RT   by CRISPR/Cas9-mediated homologous recombination.";
RL   Stem Cell Res. 63:102842-102842(2022).
//