Cellosaurus cell line FDCHi004-A (CVCL

Cross-references
Cell line name	FDCHi004-A
Synonyms	CHFUi001-A; iPS-39
Accession	CVCL_ZX40
Resource Identification Initiative	To cite this cell line use: FDCHi004-A (RRID:CVCL_ZX40)
Comments	From: Children's Hospital of Fudan University; Shanghai; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:2198; COL1A2; Simple; p.Gly328Ser (c.982G>A); ClinVar=VCV000456848; Zygosity=Heterozygous (PubMed=32659730).
Disease	Osteogenesis imperfecta type IV (NCIt: C98576) Osteogenesis imperfecta type 4 (ORDO: Orphanet_216820)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	5Y
Category	Induced pluripotent stem cell
Publications	PubMed=32659730; DOI=10.1016/j.scr.2020.101907 Zhang-Qian Zheng, Wei Lu, Zhou Pei, Jun Chen, Tong Yang, Fei-Hong Luo; Generation of an induced pluripotent stem cell line (CHFUi001-A) from an osteogenesis imperfecta patient with COL1A2 mutation. Stem Cell Res. 47:101907-101907(2020)
Cell line databases/resources	hPSCreg; FDCHi004-A SKIP; SKIP005864
Biological sample resources	BioSamples; SAMEA7002467
Encyclopedic resources	Wikidata; Q102113817
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	6