ID   CHARGE1-13
AC   CVCL_Y954
SY   CH1#13; HPS0093
DR   Wikidata; Q54811728
CC   From: Keio University School of Medicine; Tokyo; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:20626; CHD7; Simple; p.Gln1391fs*13 (c.4171delC); Zygosity=Heterozygous (Direct_author_submission).
CC   Miscellaneous: Cell line information from personal communication of Okuno, Hironobu.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C75100; CHARGE syndrome
DI   ORDO; Orphanet_138; CHARGE syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_LJ32 ! CHARGE1-7
OI   CVCL_LJ31 ! CHARGE1-11
OI   CVCL_Y955 ! CHARGE1-20
OI   CVCL_Y956 ! CHARGE1-25
SX   Male
AG   10-11Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 12
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