ID   CHOCi005-A
AC   CVCL_C9ZB
DR   BioSamples; SAMEA115493702
DR   hPSCreg; CHOCi005-A
DR   Wikidata; Q123030923
CC   From: Children's Hospital of Orange County; Orange; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4298; GLB1; Simple; p.Cys127Tyr (c.380G>A); ClinVar=VCV000918041; Zygosity=Heterozygous (hPSCreg=CHOCi005-A).
CC   Sequence variation: Mutation; HGNC; HGNC:4298; GLB1; Simple; p.Trp161Gly (c.481T>G); ClinVar=VCV000092910; Zygosity=Heterozygous (hPSCreg=CHOCi005-A).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84739; GM1 gangliosidosis
DI   ORDO; Orphanet_354; GM1 gangliosidosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_W024 ! GM03589
SX   Female
AG   7M
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 4
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