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Cellosaurus EBKC-iPSCs case2 #1 (CVCL_A4HW)

[Text version]
Cell line name EBKC-iPSCs case2 #1
Accession CVCL_A4HW
Resource Identification Initiative To cite this cell line use: EBKC-iPSCs case2 #1 (RRID:CVCL_A4HW)
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.Gly1815Arg (c.5444G>A); Zygosity=Heterozygous (PubMed=29229433).
  • Mutation; HGNC; HGNC:2214; COL7A1; Simple; p.Pro1940Argfs*65 (c.5819delC); ClinVar=VCV000017428; 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_A4HX ! EBKC-iPSCs case2 #2
Sex of cell Female
Age at sampling 58Y
Category Induced pluripotent stem cell
Publications

PubMed=29229433; DOI=10.1016/j.jdermsci.2017.11.017
Wakana Matsumura, Yasuyuki Fujita, Chihiro Nakayama, Satoru Shinkuma, Shotaro Suzuki, Toshifumi Nomura, Riichiro Abe, Hiroshi Shimizu;
Establishment of integration-free induced pluripotent stem cells from human recessive dystrophic epidermolysis bullosa keratinocytes.
J. Dermatol. Sci. 89:263-271(2018)

Cross-references
Cell line databases/resources SKIP; SKIP003127
Encyclopedic resources Wikidata; Q105506796
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number8