ID   SMBCi003-A
AC   CVCL_YC55
DR   BioSamples; SAMEA5781308
DR   hPSCreg; SMBCi003-A
DR   SKIP; SKIP005768
DR   Wikidata; Q98132700
RX   PubMed=32554297;
CC   From: Shandong Medical Biotechnological Center; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:7765; NF1; Simple; p.Val166Leufs*7 (c.496_497delGT); ClinVar=VCV000431562; Zygosity=Heterozygous (PubMed=32554297).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C3273; Neurofibromatosis type 1
DI   ORDO; Orphanet_636; Neurofibromatosis type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_YC56 ! SMBCi003-B
OI   CVCL_YC57 ! SMBCi003-C
SX   Female
AG   21Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 8
//
RX   PubMed=32554297; DOI=10.1016/j.scr.2020.101842;
RA   Shi, Liang
RA   Cui, Ya-Zhou
RA   Qi, Zi-Juan
RA   Zhou, Xiao-Yan
RA   Luan, Jing
RA   Han, Jin-Xiang
RT   "Generation of two non-integrated induced pluripotent stem cell lines
RT   from urine-derived cells of a Chinese patient carrying NF1 gene
RT   mutation.";
RL   Stem Cell Res. 46:101842-101842(2020).
//