ID   ZSPHARi001-A
AC   CVCL_C0F6
DR   hPSCreg; ZSPHARi001-A
DR   Wikidata; Q112930598
RX   PubMed=35121199;
CC   From: Zhongshan Hospital of Fudan University; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 2214; COL7A1; Simple; c.2992+2T>G; ClinVar=VCV001048002; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=35121199).
CC   Sequence variation: Mutation; HGNC; 2214; COL7A1; Simple; p.Gly2680Ser (c.8038G>A); ClinVar=VCV001075764; Zygosity=Heterozygous (PubMed=35121199).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C156446; Epidermolysis bullosa dystrophica, autosomal recessive
DI   ORDO; Orphanet_79408; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 10-09-24; Version: 6
//
RX   PubMed=35121199; DOI=10.1016/j.scr.2022.102672;
RA   Zhang Y.-Y., Fan J., Lu G.-Z., Xu G.-Y., Lv Q.-Z.;
RT   "Generation of the induced pluripotent stem cell line (ZSPHARi001-A)
RT   from a patient with recessive dystrophic epidermolysis bullosa
RT   carrying compound heterozygous mutation in the COL7A1 gene.";
RL   Stem Cell Res. 60:102672-102672(2022).
//