Table 1 Genotype of LCLs established from DBA patients. All mutations are heterozygous.

From: Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy

ID

GENE

MUTATION

S19-1

RPS19

c.283_284delG; p.Gly95Alafs*16

S19-2

RPS19

c.36_37insAG; p.Glu13Argfs*17

S19-3

RPS19

c.280 C > T; p.Arg94*

S19-4

RPS19

c.341delA; p.Lys115Argfs*9

S19-5

RPS19

c.58delG; p.Ala20Profs*9

L5-1

RPL5

c.147 C > G; p.Tyr49*

L5-2

RPL5

c.132 C > A; p.Tyr44*

L5-3

RPL5

c.1 A > G; p.Met1?

L11-1

RPL11

c.451_458delATTGGGGC; p.Ile151Glnfs*18

L11-2

RPL11

c.94_95dupA; p.Leu33Thrfs*22

L35A

RPL35A

deletion of the whole gene

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