ID   STBCi037-A
AC   CVCL_RC12
SY   SFC816-03-02
DR   BioSamples; SAMEA104493691
DR   EBiSC; STBCi037-A
DR   ECACC; 66540721
DR   hPSCreg; STBCi037-A
DR   Wikidata; Q54956452
CC   From: StemBANCC; Oxford; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 4162; GARS1; Simple; p.Ser635Leu (c.1904C>T) (S581L); ClinVar=VCV000209157; Zygosity=Unspecified (EBiSC=STBCi037-A).
CC   Discontinued: EBiSC; STBCi037-A; true.
CC   Discontinued: ECACC; 66540721; true.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C122659; Charcot-Marie-Tooth disease type 2D
DI   ORDO; Orphanet_99938; Autosomal dominant Charcot-Marie-Tooth disease type 2D
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_RC13 ! STBCi037-B
OI   CVCL_RC14 ! STBCi037-C
SX   Female
AG   60-64Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 30-01-24; Version: 10
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