ID   SMBCi003-C
AC   CVCL_YC57
DR   hPSCreg; SMBCi003-C
DR   Wikidata; Q98132702
CC   From: Shandong Medical Biotechnological Center; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 7765; NF1; Simple; p.Val166Leufs*7 (c.496_497delGT); ClinVar=VCV000431562; Zygosity=Heterozygous (from autologous cell lines SMBCi003-A; SMBCi003-B).
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_YC55 ! SMBCi003-A
OI   CVCL_YC56 ! SMBCi003-B
SX   Female
AG   21Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 02-05-24; Version: 8
//