Cellosaurus cell line EBKC-iPSCs case1 #1 (CVCL

Cross-references
Cell line name	EBKC-iPSCs case1 #1
Accession	CVCL_A4HU
Resource Identification Initiative	To cite this cell line use: EBKC-iPSCs case1 #1 (RRID:CVCL_A4HU)
Comments	Population: Japanese. Derived from site: In situ; Skin, epidermis; UBERON=UBERON_0001003. Cell type: Keratinocyte; CL=CL_0000312.
Sequence variations	Mutation; HGNC; HGNC:2214; COL7A1; Simple; p.Gly2575Arg (c.7723G>A); ClinVar=VCV000265078; Zygosity=Heterozygous (PubMed=29229433). Mutation; HGNC; HGNC:2214; COL7A1; Simple; p.Glu2857Ter (c.8569G>T); ClinVar=VCV001339053; Zygosity=Heterozygous (PubMed=29229433).
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)
Originate from same individual	CVCL_A4HV ! EBKC-iPSCs case1 #2
Sex of cell	Male
Age at sampling	24Y
Category	Induced pluripotent stem cell
Publications	PubMed=29229433; DOI=10.1016/j.jdermsci.2017.11.017 Matsumura W., Fujita Y., Nakayama C., Shinkuma S., Suzuki S., Nomura T., Abe R., Shimizu H. Establishment of integration-free induced pluripotent stem cells from human recessive dystrophic epidermolysis bullosa keratinocytes. J. Dermatol. Sci. 89:263-271(2018)
Cell line databases/resources	SKIP; SKIP003125
Encyclopedic resources	Wikidata; Q105506791
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	9