ID   UQACi007-A
AC   CVCL_C0GC
SY   iPSC-EBS29
DR   BioSamples; SAMEA10379664
DR   hPSCreg; UQACi007-A
DR   Wikidata; Q112930533
CC   From: Universite du Quebec a Chicoutimi; Chicoutimi; Canada.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6416; KRT14; Simple; p.Ile377Thr (c.1130T>C); ClinVar=VCV000066303; Zygosity=Heterozygous (hPSCreg=UQACi007-A).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84692; Epidermolysis bullosa simplex
DI   ORDO; Orphanet_79396; Epidermolysis bullosa simplex, generalized severe
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
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