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; HGNC:8507; OSMR; Simple_edited; p.Gly513Asp (c.1538G>A); ClinVar=VCV000802119; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=35714449).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C189282; Familial primary localized cutaneous amyloidosis-1
DI   ORDO; Orphanet_353220; Familial primary localized cutaneous amyloidosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_9773 ! WA09
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 17-03-22; Last updated: 19-12-24; Version: 6
//
RX   PubMed=35714449; DOI=10.1016/j.scr.2022.102842;
RA   Zheng, Wen
RA   Zhong, Ya-Dan
RA   Yuan, Li-Yan
RA   Yu, Xiao-Ling
RA   Wang, Xuan
RA   Yang, Chao
RA   Liu, Hui-Ting
RA   Lv, Ping
RA   Luo, Ying-Ying
RA   Qiu, Bi-Ying
RA   Liu, Jun
RA   Yang, Bin
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).
//