Cellosaurus cell line SMBCi003-A (CVCL

Cross-references
Cell line name	SMBCi003-A
Accession	CVCL_YC55
Resource Identification Initiative	To cite this cell line use: SMBCi003-A (RRID:CVCL_YC55)
Comments	From: Shandong Medical Biotechnological Center; Jinan; China. Population: Chinese; Han. Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations	Mutation; HGNC; HGNC:7765; NF1; Simple; p.Val166Leufs*7 (c.496_497delGT); ClinVar=VCV000431562; Zygosity=Heterozygous (PubMed=32554297).
Disease	Neurofibromatosis type 1 (NCIt: C3273) Neurofibromatosis type 1 (ORDO: Orphanet_636)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_YC56 ! SMBCi003-B CVCL_YC57 ! SMBCi003-C
Sex of cell	Female
Age at sampling	21Y
Category	Induced pluripotent stem cell
Publications	PubMed=32554297; DOI=10.1016/j.scr.2020.101842 Liang Shi, Ya-Zhou Cui, Zi-Juan Qi, Xiao-Yan Zhou, Jing Luan, Jin-Xiang Han; Generation of two non-integrated induced pluripotent stem cell lines from urine-derived cells of a Chinese patient carrying NF1 gene mutation. Stem Cell Res. 46:101842-101842(2020)
Cell line databases/resources	hPSCreg; SMBCi003-A SKIP; SKIP005768
Biological sample resources	BioSamples; SAMEA5781308
Encyclopedic resources	Wikidata; Q98132700
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	8