Cellosaurus cell line SFPHi001-A (CVCL

Cross-references
Cell line name	SFPHi001-A
Synonyms	GD09031
Accession	CVCL_C9LX
Resource Identification Initiative	To cite this cell line use: SFPHi001-A (RRID:CVCL_C9LX)
Comments	From: Shanghai Fifth People's Hospital; Shanghai; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:775; SERPINC1; Simple; p.Arg79His (c.236G>A); ClinVar=VCV000018014; Zygosity=Heterozygous (PubMed=37385134).
Disease	Antithrombin III deficiency (NCIt: C98815) Hereditary thrombophilia due to congenital antithrombin deficiency (ORDO: Orphanet_82)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	45Y
Category	Induced pluripotent stem cell
Publications	PubMed=37385134; DOI=10.1016/j.scr.2023.103150 Wei-Jie Chen, Yuan-Yuan Wang, Li-Wei Shen, Sheng-Wen Huang, Xiao-Li Yang, Dan-Hong Wu; Human induced pluripotent stem cells derived from a patient with a mutation of SERPINC1 c.236G>A (p.R79H). Stem Cell Res. 71:103150-103150(2023)
Cell line databases/resources	hPSCreg; SFPHi001-A
Biological sample resources	BioSamples; SAMEA113414143
Encyclopedic resources	Wikidata; Q123033476
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3