ID   JNCHi001-A
AC   CVCL_E4HC
DR   hPSCreg; JNCHi001-A
RX   PubMed=39332134;
CC   From: Jinan Children's Hospital; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:7765; NF1; Simple; c.730+3A>C; Zygosity=Heterozygous (PubMed=39332134).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3273; Neurofibromatosis type 1
DI   ORDO; Orphanet_636; Neurofibromatosis type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=39332134; DOI=10.1016/j.scr.2024.103568;
RA   Xin H.-M., Li Y.-X., Zhang K.-H., Ji A.-H., Fan M.-L.;
RT   "Generation of an induced pluripotent stem cell line from a type 1
RT   neurofibromatosis patient with NF1 mutation.";
RL   Stem Cell Res. 81:103568-103568(2024).
//