Cellosaurus cell line ZSPHARi001-A (CVCL

Cross-references
Cell line name	ZSPHARi001-A
Accession	CVCL_C0F6
Resource Identification Initiative	To cite this cell line use: ZSPHARi001-A (RRID:CVCL_C0F6)
Comments	From: Zhongshan Hospital of Fudan University; Shanghai; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:2214; COL7A1; Simple; c.2992+2T>G; ClinVar=VCV001048002; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=35121199). Mutation; HGNC; HGNC:2214; COL7A1; Simple; p.Gly2680Ser (c.8038G>A); ClinVar=VCV001075764; Zygosity=Heterozygous (PubMed=35121199).
Disease	Epidermolysis bullosa dystrophica, autosomal recessive (NCIt: C156446) Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form (ORDO: Orphanet_79408)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	14Y
Category	Induced pluripotent stem cell
Publications	PubMed=35121199; DOI=10.1016/j.scr.2022.102672 Ye-Ye Zhang, Jun Fan, Guang-Zhao Lu, Gen-Ying Xu, Qian-Zhou Lv; Generation of the induced pluripotent stem cell line (ZSPHARi001-A) from a patient with recessive dystrophic epidermolysis bullosa carrying compound heterozygous mutation in the COL7A1 gene. Stem Cell Res. 60:102672-102672(2022)
Cell line databases/resources	hPSCreg; ZSPHARi001-A
Encyclopedic resources	Wikidata; Q112930598
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	7