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Cellosaurus ZSPHARi001-A (CVCL_C0F6)

[Text version]
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; 2214; COL7A1; Simple; c.2992+2T>G; ClinVar=VCV001048002; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=35121199).
  • Mutation; HGNC; 2214; COL7A1; Simple; p.Gly2680Ser (c.8038G>A); ClinVar=VCV001075764; Zygosity=Heterozygous (PubMed=35121199).
Disease Epidermolysis bullosa dystrophica (NCIt: C84691)
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
Zhang Y.-Y., Fan J., Lu G.-Z., Xu G.-Y., Lv Q.-Z.
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)

Cross-references
Cell line databases/resources hPSCreg; ZSPHARi001-A
Encyclopedic resources Wikidata; Q112930598
Entry history
Entry creation23-Jun-2022
Last entry update30-Jan-2024
Version number5