ID   EBKC-iPSCs case2 #2
AC   CVCL_A4HX
DR   SKIP; SKIP003128
DR   Wikidata; Q105506800
RX   PubMed=29229433;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:2214; COL7A1; Simple; p.Gly1815Arg (c.5444G>A); Zygosity=Heterozygous (PubMed=29229433).
CC   Sequence variation: Mutation; HGNC; HGNC:2214; COL7A1; Simple; p.Pro1940Argfs*65 (c.5819delC); ClinVar=VCV000017428; Zygosity=Heterozygous (PubMed=29229433).
CC   Derived from site: In situ; Skin, epidermis; UBERON=UBERON_0001003.
CC   Cell type: Keratinocyte; CL=CL_0000312.
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)
OI   CVCL_A4HW ! EBKC-iPSCs case2 #1
SX   Female
AG   58Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 8
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RX   PubMed=29229433; DOI=10.1016/j.jdermsci.2017.11.017;
RA   Matsumura W., Fujita Y., Nakayama C., Shinkuma S., Suzuki S.,
RA   Nomura T., Abe R., Shimizu H.;
RT   "Establishment of integration-free induced pluripotent stem cells from
RT   human recessive dystrophic epidermolysis bullosa keratinocytes.";
RL   J. Dermatol. Sci. 89:263-271(2018).
//